Module 5: Heredity: Reproduction- Inquiry question: How does reproduction ensure the continuity of a

species? Organism survives→ Reproduction → Inheritance.

5.1.1 Mechanisms of reproduction:
 explain the mechanisms of reproduction that ensure the continuity of a species, by analysing sexual and
asexual methods of reproduction in a variety of organisms: animals: advantages of external and internal
fertilisation, plants: asexual and sexual reproduction, fungi: budding, spores, bacteria: binary fission, protists:
binary fission, budding.
Diploid Has two sets of chromosomes (2n) e.g., one set from each parent- somatic/body cells
Embryo Unborn/unhatched offspring in process of development
Gamete Haploid sex cells, e.g., egg/sperm (n), produced by gonads; mammals: ovaries/testes; plants:
ovaries/anthers
Gonad Sex organs e.g., ovary, testes that produce haploid gametes.
Haploid cell having a single set of chromosomes (n) (e.g., gametes/asexual).
Hermaphrodite Has both male and female sex organs (produce both sperm and eggs)
Isogamete Gametes are identical
Oogenesis Process in ovary (structure that produces eggs) that produces eggs
Ova (egg) female gamete is typically larger, stationary, and robust
Sperm male gamete is typically tiny, mobile and fragile produced in the testes
Spermatogenesi Process in the testes that produces sperm
s
zygote Fertilised egg, diploid product from union of two gametes.
Protozoa eukaryotes, never have a cell wall. Can be heterotrophic or autotrophic.
ASEXUAL/SEXUAL REPRODUCTION: process of creating fertile offspring with genetic diversity/adaptability.
 Sexual reproduction (2 parents): combination of gametes so that the offspring are genetically different to
the parents.
 Asexual reproduction: no combination of gametes/genetic material, offspring are identical to the parent
e.g., archaea.
Advantages Disadvantages
Sexual ✓ More Variations  continuity of species (evolution) high genetic × More time (courtship/a mate)/energy, two-fold
exchange (due to meiosis; mutations/crossing over; more genetic cost of sex
combinations). × More complicated, involves suitable conditions.
✓ Better able to adapt to selection pressures (won’t remove × Fewer offspring produced, takes time to build a
species) population
Asexual ✓Rapid colonisation an environment without a mate (save time) × limited diversity/variation/adaptations (share
✓ No requirement of mates or care of offspring, no courtship weaknesses)- can be wiped out (reduces ability
required to adapt), changing environments impact. May
✓ Faster, more reliable/less energy, simpler (energy efficient), lead to extinction.
quicker
SEXUAL REPRODUCTION:
ANIMALS Fertilisation: Union of two haploid gametes (produced by meiosis  produces 4 haploid gametes, each genetically
different) to produce a diploid zygote. Sperm fertilises egg  diploid zygote (2n)- unique combination of genetic
material (both parents), original number is restored.
PLANTS The stamen (male):
Hermaphrod  Anther: organ where the pollen (a fine powdery substance contains a male gamete- sperm nuceli) grains are
ite formed.
(angiosperm  Filament: slender stalk where the anther is held. Length depends on pollination mode; shorter filaments =
) insect pollinated plants.
The pistil (no. of carpels) (female):
 Ovary (base): forms and contains the ovules (eggs)  seeds after fertilisation.
 Stigma: (top) sticky surface where the pollen adheres to, to germinate.
 Style: narrow stalk connecting the stigma and ovary (supports stigma).
POLLINATION: transfer of pollen from anther  stigma (involves the external parts of the plant). Pollen grains are
held up at the anther where it is removed by the wind, birds or insects. It is transferred to the pistil of the same
flower (self-pollination) or another flower (cross-pollination, ensuring genetic diversity).
 FERTILISATION/DEVELOPMENT: union of 2 haploid gametes to produce a diploid zygote. Pollen falls on the stigma
 pollen tube grows (germinates) through the stile to the ovary. The pollen migrates through pollen tubes, to the
ovules (contains eggs) sperm fertilises eggs, in the ovary where fertilised ovule develops into a seed and the
surrounding ovary grows to become a fruit providing with nutrients.
GERMINATION: When the fruit is removed, the seeds within disperse. The embryo lies dormant, (dehydrated form).
If suitable conditions (sufficient water, oxygen, temperature), germination begins. The embryo puts out its: Radical
(first root) for absorption of water/nutrients AND Plumule (stem) which develops leaves for photosynthesis.
METHODS OF POLLINATION:
Method Adaptations for Method
Wind  Protruding stigma to catch more pollen + Flower is not colourful to conserve energy.
 Light-weight, small pollen; Large pollen production e.g., long-hair plume grass
Animals;  Colourful petals to attract pollinators E.g., bottlebrush; numerous stamen/bright red
birds/ colour/nectar (birds).
insects  UV markings for insect attraction
 Scent and nectar e.g., Wattle has no nectar/sweet scent/yellow flower for insects
 Stigma and anthers within flower, energy not wasted in growing tall.
 Pollen is sticky.
Methods of seed dispersal (adaptations): prevents overcrowding/competition (continuity of species) more
widespread = better survival
Wind Seeds are light weight
Animals Seeds are fruit bearing (eaten by animals); Passes through digestive system, excreted,
(birds/insect) germinates
Self-dispersal has explosive mechanism, which propels seeds, reduces the competition for resources 
better survival
ASEXUAL REPRODUCTION:
PLANTS VEGETATIVE PROPAGATION: done by vegetative organs e.g., bulbs/tubers. New plant individuals are clones.
Grown via cuttings: plant piece grows into a genetically identical replica or grafting: stem/bud from one parent is
joined to another.
Perennating organs: underground organs e.g., roots/stems; contain stored food. Means of surviving adverse
conditions, creates new plant.
Part Vegetative organ
Stem RUNNERS (modified stems): underground stems that connect plants producing baby plants tips. e.g.,
strawberries.
RHIZOMES: horizontal underground stems capable to producing shoot/root system of a new plant (stores
starches) e.g., ginger.
TUBERS: develop from swollen regions of a stem, or from buds/eyes to store nutrients.
BULBS: stores their complete life cycle in an underground structure OR grows on the plant in a bulbil (pre-
formed juvenile plant) before dropping off and forming runners/rhizomes.
The plant bends over and parts of a branch that touch the ground sprout adventitious roots, this
connection is eventually lost.
Roots SUCKERS: vertical growths that can resprout from underground (allows for rapid regrowth)- blackberries.
FUNGI e.g., SPORES: tiny, unicellular reproductive cells released from parent germinating into a new organism (can give rise to
Yeast. a new individual without sexual fusion); a bacterial cell can produce a protective coat that surrounds its DNA,
unicellular/ protects from desiccation/extreme temperatures, e.g., mould. Light, surrounded by protective wall (to survive
multicellular difficult environmental conditions), easily dispersed, stay dormant for years. Don’t need to fuse. Changes in the
. Masses of environment induce a sexual reproductive phase, 2 hyphae fuse. Form sexual reproductive fruiting body (with
fungal spores). Fungal spores are a unit for asexual reproduction and result in offspring whereas bacterial sores don’t
filaments make offspring. A single bacterium shuts down functions and is called a spore while it is surrounded by a
(hyphae) protective layer. It resumes functions when conditions are more favourable.
called 1. Haploid spores are generated from diploid sporophytes through meiosis.
mycelium, 2. Favourable conditions: spores will be released into environment (fungi develop large numbers of spores;
with spore- spores attach to suitable substrate and germinate which involves absorption of water and division by
producing mitosis coming a new hyphae) → Asexual. Allows umbers to increase quickly when favourable
structures environments.
3. Unfavourable: spores will form into haploid gametophytes, fertilisation produces zygotes (Plasmogamy:
fusion of protoplasm  Karyogamy: fusion of nucleus  Meiosis: nuclear division) → Sexual.
 Alternation of generation: (asexually/sexually within a lifecycle) both diploid (sporphyte) and halpoid
(gametophyte) multicellular stages.
FRAGMENTATION: pieces of the fungal colony break off into 2+ fragments/become separate colonies
which develops into multicellular clones.
BUDDING: uneven division of the cytoplasm (new organism develops as an out-
growth of the original). nucleus of a fungal cell divides (a small outgrowth) and
splits off unevenly from the rest of the cell by cytokinesis. As the bud enlarges the
part cell replicates its DNA. The nucleus then divides its genetic material, and one copy
moves into the bud. COMPLETE: separation  new cell. INCOMPLETE: Bud stays attached to the mother → Keeps
budding → hyphae → mycelium
BACTERIA: BINARY FISSION: A diploid mother cell splits into two genetically identical diploid daughter
prokaryotic cells. E.g., amoeba. Rapid cell divisions/hour ensures continuity of species. Daughter cells
organisms sometimes get unequal numbers of chromosomes.
1. A cell grows, reaching the limit of its SA:V.
2. Organism replicates nucleoid/plasmid DNA (supercoiled). DNA attaches to opposite ends of cell
membrane.
3. A range of proteins accumulate at the centre of the cell and play a role in pinching off the cytoplasm.
4. A new cell wall is synthesised in area of cleavage and splits into two cells with identical genetic material.
PROTISTS Uni/eukar. e.g., algae. BINARY FISSION: same as bacteria but without cell wall. + BUDDING: uneven division of the
cytoplasm.
INTERNAL AND EXTERNAL FERTILISATION: fusion of gametes in sexual reproduction.
 Internal fertilisation: Union of male/female gamete inside the female’s body e.g., land-based animals.
 External fertilisation: gamete union occurs in the external environment e.g., aquatic environments- gametes
are released into water.
o Spawning is timed to seasons, lunar cycles or other environmental events, Courtship is followed by
copulation (brings parents physically closer to each other to increase chances of fertilisation).
o Sponges and corals are immobile, broadcasting spawning is the only mechanism for fertilisation.
Water movement carries gametes away to increase gene combinations and variety as well as
allowing for colonisation of new areas. Survival however is low because of predation, destruction by
wave action/weather. Organisms produce large numbers of gametes.
 Note: copulation can be male/female contact with each other/simultaneous gamete release or male
deposition of sperm into female
Advantages Disadvantages
Internal ✓ Increased likelihood of fertilisation (close proximity) × Fewer offspring produced (biologically
Fertilisation ✓ Less gametes produced, reduces energy expensive).
✓ Offspring have a greater chance of survival (predator × Mating rituals = time consuming/postpone
protected) copulation
× Fertilisation, gestation and parental care
demand energy.
× Breeding is paused for gestation (pregnancy)
External ✓Greater number of offspring are produced (higher genetic × Many gametes must be produced. High energy.
fertilisation diversity) × Only occur in aquatic environments.
✓ Prevention of dehydration + Can continue without pause × Gametes are more susceptible to the risks;
for gestation Absence of parental care can increase risk of
✓ Offspring are dispersed, less competition + no energy predation
spent on care
✓ Many gametes released, increasing fertilisation
COMPARISION- INTERNAL AND EXTERNAL FERTILISATION:
Characteristic Internal Both External (spawning- broadcasting
gametes)
Fertilisation In female reproductive system Sperm fertilises egg In external aquatic environment
Chances of High; shed into confined space. proximity increases chance Low; shed into a large space.
fertilisation
Result Zygote Requires watery medium Zygote
Breeding frequency Low, seasonal e.g., Reptiles, environmental conditions High e.g., Fish, amphibians
 birds
No. of offspring Small (but survival rate is high) High (but survival rate is low)
Gametes Released Large number of sperm, small number of Large number of both
eggs
Synchronisation Sperm is continually produced; eggs only on Male and female gametes release simultaneously
a cycle. (triggered)
Copulation YES NO
Parental care Yes; care of zygote during development/after None
birth.
5.1.2 FERTILISATION, IMPLANTATION, PREGNANCY/BIRTH:
 analyse fertilisation, implantation, hormonal control of pregnancy and birth.
The uterine cycle: changes in the endometrial lining of the uterus
The ovarian cycle: changes in ovary during which follicle matures, ovum is shed and corpus luteum (a temporary
endocrine structure in ovary which forms from the remnants of the follicle after ovulation (discharge of ova from
ovary)- hormones supports early pregnancy) develops
The menstrual cycle: is a series of natural changes in hormone production and the structures of the uterus and
ovaries of the female reproductive system that makes pregnancy possible (sheds the lining of the uterus).
Hypothalamus: is the interface between the nervous system and the hormonal system.
Endometrium: the mucous membrane lining the uterus, which thickens during the menstrual cycle in preparation
for implantation.
Oestrus: a recurring period of sexual receptivity and fertility, increase in sexual behaviour at the time of ovulation.

FERTILISATION: gamete fusion in gonads, production of a zygote. Sperm must be deposited in the vagina 24-72
hours after ovulation.
1. During intercourse sperm enter the vagina, then pass through the cervix. Swim through the cervical mucus
which is thinned to a more-watery consistency. Muscular uterine contractions assist. The women’s immune
system, destroy sperm. Sperm swim through both fallopian tubes. Cilia (trap sperm) pushes the egg toward
the uterus. Reproductive tract causes the sperm heads to change making the sperm hyperactive swimming
harder/faster. Sperm are attracted to the egg by chemical.
2. Sperm must push through the corona radiata (layer of cells around egg), to reach the Zona pellucida (narrow
fluid filled space outside the egg cell membrane) and attach to sperm receptors on the surface, which
triggers their acrosomes (tip of sperm head) to release dhydrolytic enzymes enabling the sperm to digest
zona pellucida. Sperm making 1st contact will fertilise egg. Cell membranes of the sperm/egg fuse pulling
sperm inside. Triggers cortical reaction.
3. Enzymes from cortical granules (secretory vesicles in cortex), undergo exocytosis + release their contents
and zona pellucida hardens to block polyspermy (maintains correct diploid number- continuity of the
species). Two nucleuses of egg/sperm undergo mitosis.
4. Fusion of haploid gametes form a diploid zygote. Tightly packed male genetic material
spreads out, creating the male pronucleus. Female genetic material awakened by the
fusion of the sperm creating a female pronucleus (nucleus of a sperm/egg before
fertilisation) which also contains 23 chromosomes.
5. Fallopian tube sweeps completed zygote toward uterus to implant into rich uterine lining.
EARLY EMBRYO DEVELOPMENT: After fertilisation, ZYGOTE remains in the fallopian tube for about 72 hours.
6. Embryo (day 10/12 to 8th week). Day 0: pronuclear. Day 1-3: cleavage: First it divides into two cells (2
nucelus fuse to form 1). Day 4: Morula: Cell division is repeated many times until a solid ball of cells;
MORULA (16 specialised cells). Day 5+: As the cells continue to divide, they begin to move towards the outer
edges of the ball, until it becomes a hollow ball of cells (BLASTOCYST).
7. Hatching: after the blastocyst stage, it hatches out of its zona pellucida.
8. Implantation (8-9): zygote (32 cells) travels towards uterus, undergoing mitotic divisions. Secretion of
chemokines attract blastocyst which attaches/burrows into uterine wall (endometrium). Adhesion molecules
ensure adhesiveness between embryo/endometrium.
9. Cells continue cell division; 3-4 blastocyst cells develop into the inner cell mass (protective ‘bag’); remaining
cells form trophoblast.
10. Foetus: embryo develops bone and tissue (8+ weeks)
 Hormones of pregnancy and labour: Embryos produce human chorionic gonadotropin (hCG), which prevents the
corpus luteum from degrading, stimulating progesterone and maintaining a thickened endometrium. After 12 weeks,
the placenta is fully developed, takes over the production of progesterone and oestrogen (corpus luteum degrades).
Hormone Secreted by Active period Effects on pregnancy and foetal development
during pregnancy
Progesterone Early – corpus Slowly rises Increasing blood flow to the womb (stimulating blood vessel growth).
MAIN luteum in during Stimulating glands in the endometrium to produce nutrients that
ovary pregnancy sustain embryo. Stimulating endometrium to grow/thicken (for
Later - implantation). Preventing the muscles of the womb contracting until
placenta labour; decreases at the end. Preventing lactation until after pregnancy.
Strengthening the muscles of the pelvic wall in preparation for labour.
Ensures that the uterus is prepared; support the development of the
placenta.
Oestrogen Slowly rises Maintain, control, stimulate production of other hormones.
during Development of many foetal organs. Stimulating the growth and
pregnancy correct function of the placenta. Promoting growth of breast tissue,
preparing mother for lactation (breastfeeding). Strengthens uterine
muscles production of other pregnancy hormones.
FSH Pituitary gland Follicle stimulating hormone allows for maturation of follicles
LH Luteinizing hormone: final maturation of follicles development of
corpus luteum
Human Placenta increases rapidly Used to support the development of the corpus luteum (responsible for
chorionic and peaks (10-12) producing pregnancy hormones- first trimester). High in early
gonadotrophin weeks before pregnancy (at implantation levels are around 50, one week later the
(secreted by falling to a lower level has jumped to 500, however increase to a max of 200,000) but
the concentration. once the placenta takes over to produce the pregnancy hormones, the
trophoblast) corpus luteum no longer needed; used to indicate pregnancy in
pregnancy tests.
Human Slowly rises  Promote growth of mammary glands
placental During pregnancy  Helps regulate the mother’s metabolism
lactogen
SEX HORMONES: Responsible for the development of reproductive organs/secondary sexual characteristics. TYPES:
Testosterone produced by the testes, responsible for the development of sperm/secondary sexual characteristics in males
(Increased size of muscles/bones)
Oestrogen development of the female reproductive system, and secondary sexual characteristics in females. (larger breasts,
wider hips)
Progesterone Only in females. Ensures that the thickness of the endometrium is maintained during pregnancy.
MENSTRUATION AND OVULATION: hormonal process a woman's body goes through each month to prepare for
pregnancy
Hormones: chemical messengers that are responsible for the communication between organs/tissues to regulate
physiological/behavioural processes. Are secreted by the gland/organ/structure.
hormone produced role
Follicle Simulating Pituitary Causes egg to mature in ovary. (maturation of follicles) Stimulates the ovaries to release
horome gland oestrogen
Lutenising horome Triggers ovulation (release of mature egg)- development of corpus luteum.
Oestrogen Ovaries Stops FSH being produced (so that only one egg matures). repairs, thickens and maintains
the uterus lining. Strimulates the pituary gland to release LH.
Progestrone Maintains the lining of the uterus during the middle part of the menstrual cycle/pregnancy
Ovulation: ovary releases a ripe egg. In ovary there are follicles: hollow ball of cells with an immature
egg in the centre.
1. FSH rises, causing follicle cells to develop (first 7 days)/boosts oestrogen into blood stream to
prepare uterine lining.
2. Day 7: Follicles stop growing and begin to degrade except for one which grows/nourishes the
developing egg inside.
 3. Day 12: Follicle secretes a large amount of estrogen into the blood stream, reaching the pituitary gland
which releases a huge surge of LH into the blood stream  follicles undergo a sudden growth spurt. Egg
detaches from the inside of the follicle and releases chemicals, causing one of the two fallopian tubes to
move in/surround follicle.
4. LH inhibits FSH and oestrogen production.
5. LH causes dominant follicle to swell up + burst open ejecting the egg and fluid into the abdominal cavity.
Fimbriae (tiny projections at the end of the fallopian tube) sweep across the ovulation site and pick up the
egg, transporting to the entrance of the fallopian tube.
6. Follicle develops into corpus luteum, producing progesterone/oestrogen
7. LH/FSH production inhibited by progesterone. Prevents 2nd egg being released. Endometrium thickens.
** LH and FSH spike when follicle ruptures. Progesterone spikes when the corpus luteum is largest. Oestrogen spikes
at both these times
FERTILISED NOT FERTILISED
Zygote implants (into endometrium) producing Human Chorionic 1. Corpus luteum degenerates
Gonadotropin maintaining corpus luteum to produce progesterone 2. Oestrogen and progesterone production stopped
(12wk) 3. Endometrium is shed (menstrual flow)
1. The placenta develops fully and begins secreting 4. LH and FSH produced again. Cycle repeats
progesterone
2. Corpus luteum degrades, the placenta maintains
pregnancy
Foetus develops an umbilical cord and placenta (disk-shaped tissue which gets embedded into the uterus wall by
placental villi, connecting the blood systems of the mother and the foetus without them fusing).

BIRTH: offspring moves into external environment. Cervix relaxes/widens, sac bursts, releasing fluid, baby and
placenta. Positive feedback in labour: process which enhances an action. Baby head puts pressure on cervix 
cervix stretches  stimulating nerve impulses to be sent to brain  triggers hypothalamus to cause the pituitary to
release oxytocin  increases uterine contractions  pushes baby against cervix until baby is born. Hormonal
control:
Hormone Secreted by Active period Effect
Oxytocin Pituitary gland Levels rise at onset of Causes regular contractions of womb/abdominal muscles, creates
labour positive feedback loop until birth. Triggers release of
prostaglandins which cause further contractions.
Prolactin Increase during Stimulates milk production and enlargement of mammary glands
pregnancy, peaks
at/after birth
Relaxin Early- corpus Quite high in the first Inhibits uterine contraction preventing premature birth. Relaxes
luteum trimester then quite pelvic joints, lengthens/softens of cervix. Relaxes blood vessels,
Later - Placenta stable increase blood flow to placenta.
Prostaglandin placenta Increases towards Cause cervix to dilate and contractions to occur
s labour
Progesterone prevents contractions to maintain a stable environment for the growing foetus. In the last ⅓ of
pregnancy, the placenta produces estriol inhibiting progesterone, promoting oxytocin.

LACTATION: production of milk to sustain the offspring. Stimulates the mammary glands to produce milk (production
stops with decline of prolactin which happens with the decline of oestrogen (ie. After the birth)).
 High levels of oestrogen before birth stimulate the production of prolactin (positive feedback)
 High levels of prolactin inhibit milk production (negative feedback)
5.1.3 MANIPULATION OF PLANT AND ANIMAL REPRODUCTION IN AGRICULTURE: increase reproduction rate for
continuity of species/survival: evaluate the impact of scientific knowledge on the manipulation of plant and animal
reproduction in agriculture
 Reproductive technologies: increase rate of reproduction/no. of offspring per generation. Control the
passing of favourable traits.
 Biotechnology manipulation of living organisms for human benefit.
 WHOLE-LEVEL MANIPULATION: Selective breeding: Humans breed together parents with desirable traits increasing
yield and quality of plant & animal foods. Wheat: Ancestral: few small seed kernels, stem bends over easily,
variations in disease resistance, growth rates etc. Modern: many large seed kernels, stronger upright stem, selected
for uniformity in high disease resistance and fast growing.
 Advantages: If there are desirable traits in the male/female, the offspring will most likely also have at least
one of these traits.
 Disadvantages: Cannot guarantee the desired trait will be expressed, Reduces the genetic diversity,
interspecific (between different species) breeding cannot reproduce, vulnerable to extinction.
CELL-LEVEL MANIPULATION: increase production/human survival, decrease biodiversity/susceptible to
environmental changes.
Type/Method Advantages Disadvantages
ARTIFICAL INSEMINATION delivers sperm directly ✓ Favourable traits × Cannot guarantee the desired
to the cervix. Semen is collected. Female is ✓ increases chance of fertilisation trait will be expressed
identified. Insemination performed by using an thus increases yield. × Reduced genetic
insemination gun to shoot semen into cervix where ✓ advantageous when it is variation/diversity (change of
they swim to the egg, which is fertilised. costly/difficult to bring the male random crosses)
and female together × High cost (for cattle: $40000)
✓ Reduce disease transmutation. × High technical expertise needed.
× Disturbs species/natural
✓ Increase production efficiency
impregnation.
Sperm can be frozen and transported. Used to provide the best genetic material (improve production, health traits, longevity,
and fertility of the livestock). Ensures maximum yield/meets expectations of farmers. Process allows farmers to provide best
genetic material. E.g., Cattle have higher quality beef
 ICI - insertion of sperm into the cervix via syringe at prime ovulation time. Woman instructed to lie allowing sperm to
move from cervix  uterus
 IUI- insertion of sperm past the cervix into the uterus. Sperm is prepared/increased in concentration. Uses an instrument
to place sperm in.
ARTIFICIAL POLLINATION e.g., Kiwifruit: produces ✓ Crossbreeding of favourable × Cannot guarantee the desired
large numbers of fruit/increases size of seeds traits trait will be expressed.
pollinated by wind/ honeybees, requiring large ✓ Ensures successful pollination, × Reduced genetic
amounts of pollen to be viable fruit. Plants carrying increasing yield, size and seed variation/biodiversity
desired traits are chosen. Pollen removed from the numbers + Is a reaction to the × does not produce as many crops
stamen of one plant is applied to the stigma of decrease in pollinator availability × very time consuming and
another plant (flower is covered to prevent cross- ✓ Decreases likelihood of self- fertilisation is not guaranteed
pollination). Pollen fertilises ovum. pollination (natural has no resources required)
✓ provides high conversion flowers
 fruit
To produce large fruit the produced needs to know about pollination and how the sex of the plants affects the final product.
Trial experiment to find out new information are financially costly, having to dedicate land to experiments/receive potentially
low income from experimental plots.
To create new variety the producer needs to know about the flower anatomy of the kiwifruit plant and which parents will give
the desired offspring. They need to understand that male flowers are found on a different plant to females and when the pollen
is ripe on the anthers. Need to understand when the stigma is in a state to accept pollen transfer- hopefully the two times are
synchronised, if not the producer needs to know how to store pollen for max seed production. Trials should be done to know the
number of days for which the female stigma is able to receive pollen for max seed production. Trials have shown 1000-4000
seeds produces an acceptable size fruit. Need to know how far pollinators will travel in order to see how many male plants are
needed (too many is a waste taking un unnecessary resources).
 RoboBee: is being developed to add to the pollen distributing vehicle that will sense which flowers are female and spray
pollen directly on to them. Current methods sprayed over the whole vine which was a lost of wasted pollen which is
expensive to collect and process. Trials have found fruit is comparable in quality to commercial however the overall fruit
set was low. (Low average yield).
 10-12% of vines must be male and scattered evenly. Correct timing and application of pollen is essential to fertilisation.
CLONING (both): a group of organisms which are all ✓ Cloned individuals have identical × Clones have no adaptability,
genetically identical e.g., Dolly the Sheep was requirements/ environmental susceptible to the same disease,
cloned from a cell. Somatic body cell of organism A conditions to produce similar yields lack of variation
is removed, and the nucleus is extracted which is (crop management) × Expensive/difficult (ineffective)
put into the denucleated egg of a donor and ✓ Desired trait is always expressed, × Ethical concerns
implanted into a surrogate mother. The offspring is genetic material is preserved. × Clones have questionable health
a clone. ✓ used for selective breeding (effects) and shorter life span
✓ have been used to recreate × premature aging and problems
clones of extinct species with the immune system
✓ Create security for the global × abnormal pregnancies
health
Plants: taking cuttings (explants) from a parent stock and planting out the cutting/grafting (making more desirable plants).
“Tissue culture”: thousands of identical plants can be grown from one parent via culturing plant tissue in a nutrient liquid and
using hormones to stimulate differentiation of root & shoot.
HYBRIDISATION: organism with traits from two ✓ Create useful crops × hybrids are heterozygous
different species e.g., Okra-Dokra. Two strands of ✓ Combine desired traits with × cannot be used for pure breeding
plants/animals are interbred to produce a hybrid. favourable characteristics HYBRID stock
The stamen is used to pollinate the pistil, pollinated VIGOUR × Expensive
flower's fruit is then harvested, and its seeds are ✓ Improves agricultural gain × Contributes to biodiversity loss
grown. practices which increase crop yield × More difficulty in finding mates
Around 25% of plants and 10% of animals hybridise with at least one other species (create biodiversity) BUT can reduce variety.
GMO’s e.g., GM corn is made to resist ✓ More nutritious food × a reduction in insect biodiversity
pests/tolerate herbicides ✓ Can produce toxins as × unanticipated effects on other
inserting DNA from one species into the other a resistance to disease and pests crops or animals
cells/genome (altering genetic material). Usually, ✓ Less use of pesticides × creating harder-to-kill invasive
the cells are then grown in tissue culture where ✓ Greater food security species.
they develop into plants. Seeds produced will × transmission of GMO genes to
✓ Increased supply of food with
inherit the new DNA. wild plants
reduced cost and longer shelf life
× Release of toxins to soil
✓ Faster growing
Transgenic (plant/animals): A gene for a specific guaranteed expression of desired low adaptability, mixing of GM
trait is removed from a species. The transgene is trait, Increase yield, Reduced with wild populations, unknown
held in recombinant plasmid and injected into the harmful chemicals use, Increases side effects, usually cloned
zygote of another species, then implanted into the genetic diversity. (decreases diversity).
surrogate mother. The offspring express the
transgene in their phenotype.
Cell Replication- Inquiry question: How important is it for genetic material to be replicated exactly?

5.2.1 THE PROCESSES INVOLVED IN CELL REPLICATION

 model the processes involved in cell replication, including but not limited to: mitosis and
meiosis, DNA replication using the Watson and Crick DNA model, including nucleotide
composition, pairing and bonding
 assess the effect of the cell replication processes on the continuity of species (ACSBL084)
Karyotype an individual’s chromosomes.
Somatic cells Body cells Not important in an evolutionary sense.
Chromosom threadlike structure of nucleic acids/protein found in the nucleus, carrying genetic information via genes. Passed
e from parent to offspring. Maternal/paternal chromosomes in a homologous pair have same genes at same locus
(location on chromosome), but different alleles.
Histones act as spools around which DNA winds to create structural units called nucleosomes.
Chromatin material of which the chromosomes of eukaryotes are composed, consisting of protein, RNA and DNA
Chromatids one of the two identical halves of a chromosome that has been replicated in preparation for cell division.
Homologous paired 2 copies of each chromosome which carry the same genes (1 from each parent); each pair are same
size/shape/code for same traits.
Linked genes Genes on same chromosome = more likely to be inherited together. Genes on different chromosomes = more
likely to be separated due to independent assortment.
Crossing homologous chromosomes which have duplicated forms a chiasma which exchange alleles then move to the
over equator of the cell.
Random Segregation: Random in terms of what pair ends up where.
Synapis pairing of homologues chromosomes.
Tetrad 4 sister chromatids of paired homologous chromosomes
Spindle microtubules with associated proteins which attach to the centromere of the chromatids. Shortened during
fibres anaphase moving to the pole, enables the chromosomes to move apart to form two daughter cells at poles.
CELL CYCLE: (mitosis + interphase) a series of events that occur in the life of eukaryotic cell, Describes the sequence
of cell growth and division.

Interphase (90%): time of high activity between cell divisions, when the DNA is replicating, and organic
molecules/cell components are being synthesised. The nucleolus is visible, but chromosomes are not individually
visible.
 G1- growth: growing in preparation for mitosis e.g., producing proteins, cytoplasmic organelles. Most cell
growth occurs. Makes sure the cell is fully functional. Some differentiated cells leave the cell cycle/stop
dividing e.g., muscle/nerve cells. SA: V decreases
 S- DNA synthesis/replication: Grows to the point of not being able to function well, chromosomes are copied
and replicated  ensures cells have the correct amount of DNA.
 G2- growth and preparation for mitosis. Detection of mutations/correction of errors.
 M-Mitosis/Cytokinesis: division of the cytoplasm (cell splits into two new daughter cells)
Behaviour of chromosomes: DNA replicates, chromosomes don’t. When 2 DNA are attached at the centromere  2
sister chromatid.
*GO Phase: Is a resting stage can be where some cells reach their mature form e.g., nerve and heart muscle. Some
cells stay at the G0 phase for some time and will begin to divide if needed*

*Note if faulty division occurs cells do not perform their normal function and masses of unspecialised cells can build
up forming a tumour*

Checkpoints (control point in the cell cycle). Proteins keep the steps of the cycle in order/operating normally.
 G1: the integrity of the DNA is assessed or else it can either repair/kill itself. Determines if the rest of the
cycle occurs.
 G2: chromosome duplication is assessed; Triggers mitosis/makes sure chromosomes have been replicated
and DNA is not damaged.
 M: DNA damage point to check if sister chromatids are correctly attached before anaphase. Mitotic spindle
needs to align correctly.

MITOSIS: process during cell division where the cell nucleus divides producing diploid cells (2n) (parent cell creates
two identical diploid daughter cells which a full set of chromosomes). (eukaryotes). Rare Errors occur. Each
chromosome gets duplicated and condensed. Genetic information is transferred to new cells as DNA (present in
nuclei, mitochondria and chloroplasts). Location: Somatic cells.

Function: Growth, repair, maintenance (for repair older cells when they are damaged/worn or growth e.g., hair/root
tips). Essential to become multicellular as it increases the number of cells. Genetic information is transferred into new
cells as DNA. Starts from zygote to embryo. Lower skin cells and cells lining the digestive tract divide constantly,
nerve may never divide.

 Prophase (longest phase): chromatin condenses into the shape of chromosomes and become visible
(shorten/thicken). The nuclear membrane dissolves. Replicated DNA coils into sister chromatids joined by
centromere.
 Metaphase: chromatids line up along the central plane of the cell and the spindle forms/connect the
centrioles to the centromeres. Sister chromatids are on either side of the equator.
 Anaphase (shortest). Pair of chromatids separate at their centromere (form a V shape dragging them
through cytoplasm towards the centrioles). As each one is pulled spindle fibres as the fibres
shorten/contract. Chromosomes with one DNA are pulled to opposite poles of the cell (no longer
chromatids). Plant cells do not have centrioles.
 Telophase: spindle disappears, the sets of chromosomes at the poles condense, the nucleoli
(membrane)/nucleolus reform around each group.
 Cytokinesis (2 new diploid cells are formed): In animal cells a cleavage furrow begins at the centre, cell
membrane constricts with the help of a contractile ring of microtubules and microfilaments, continuing as
 the cell membrane is pinched in until they are separated into two segments by a ring of contractile
filaments. Plants have rigid cell walls so a cell plate forms across the mid-line by the coalescence of tiny
vesicles (made by golgi bodies) forming two membranes, then cell walls.
IMPORTANT: Make sure each new cell has sufficient organelles for growth/survival. The cell organelles are evenly
divided/disturbed between the two daughter cells. Each needs sufficient organelles e.g., mitochondria, ribosomes,
and endoplasmic reticulum so it can grow/live.
INTERPHASE PROPHASE METPHASE ANAPHASE TELOPHASE CYTOKINESIS

MEIOSIS: process where gametes are produced. Results in 4 genetically unique daughter cells with half the original
number of chromosomes (each gamete cell receives 1 chromosome of each homologous pair). Has its own unique
combination of alleles as a resulting of crossing over. Independent assortment/random segregation: increased
number of random combinations = greater genetic variation in offspring.
1. Interphase: Chromosomes cannot be seen individually (chromatin material); thin, long, coiled together. DNA
replication takes place.
2. Prophase 1: Chromosomes with 2 chromatids (contains 2 sets of chromosomes; have replicated/condensed)
appear, forms a tetrad (Crossing over: non-sister chromatids cross over/exchange maternal/paternal alleles
across the chiasma. Happens randomly). Chromosomes are arranged in homologous pairs. Nuclear
membrane dissolves. Centrioles move towards the poles.
3. Metaphase 1: Independent assortment: Homologous pairs of chromosomes line up in double file along the
cell's equator and attach to spindle fibres. The arrangement is random. Random segregation: Chromosomes
of the homologous pairs move to the poles independently of each other. Create a unique
combination of alleles in the gametes.
4. Anaphase 1: Spindle fibres separate each tetra and pull chromosomes to the opposite poles.
5. Telophase 1: Nuclear division completes; one chromosome from each pair on each side; sister
chromatids are no longer individual cause of the allele exchange, nuclear membrane reform.
6. Cytokinesis 1: Cytoplasmic division completes. 2 haploid, non-identical cells are formed.
7. Prophase 2: membrane disappears, chromosomes condense, new sets of spindle fibres from centriole;
moves towards equator
8. Metaphase 2: Chromosomes line in a single file along the equator; spindle fibres separate (chromatids),
forming chromosomes
9. Anaphase 2: Spindle fibres contract, pulling chromosomes to opposite poles.
10. Telophase 2: Nuclear division completes. fibres disappears and the nuclear membrane reforms.
11. Cytokinesis 2: Cytoplasmic division completes. 2 haploid, non-identical gametes are formed per daughter
cell. In total, 4 haploid, non-identical gametes are formed.

INTERPHASE PROPHASE METAPHASE ANAPHASE TELOPHASE CYTOKINESIS

PROPHASE 2 METAPHASE 2 ANAPHASE 2 TELOPHASE 2 CYTOKINESIS

 MITOSIS VS. MEIOSIS:
MITOSIS MEOSIS
Type of cell produced Somatic Gamete in germline cells.
No. of cells produced 2 4
Location Somatic cells Germline cells
Function Growth and repair Gametes for sexual reproduction
Parent cell Diploid Diploid
Chromosomes per daughter Diploid 2n  2n 4 haploid (n) daughter cells. Meiosis I: Reduction division.
cell Creates haploid cells from diploid cells. Meiosis II: Maintains
haploid number in daughter cells.
Degree of variation Identical (excluding Large variation (due to random segregation and crossing over of
between parent cell and variations due to mutations) genes).
daughter cell
DNA replication Yes, in interphase.
WATSON AND CRICK DNA MODEL (1953)- during interphase: Came up with a model with a sugar backbone.
Deoxyribonuclei deoxyribose (has lost an oxygen atom at thus deoxyribose; making backbone more stable/robust than RNA
c acid: (in as oxygen is highly reactive) nucleic acid carries the ‘blue print’ for genes/heredity instructions for the
nucleus of organism. Needs to lasts long for the continuity of species. Made up of two strands is twisted around a
eukaryotes)- double helix and each is made up of 4 types of nucleotides. Has an antiparallel structure, 3’ to 5’ prime
stores genetic direction (has the phosphate attached to the 5th) prime on the left; the strands go in opposite directions.
material.
Chromosome a strand of DNA which has been tightly coiled and condensed around proteins called histones.
Chromosomes only form before cell division. In a non-dividing cell, DNA is in the form of chromatin.
RNA (only one Ribose nucleic acid; doesn’t last as long because oxygen is highly reactive; oxygen atom (OH) attached to
strand) carbon 2. This makes the RNA more fragile and subject to degradation. Doesn’t have thymine instead has
Uracil
Ribose Is a sugar has 5 carbons. More energy to split G,C then A, T
Deoxyribose Is a monosaccharide; Five-carbon sugar component of DNA
Complementary Bases: Either of the two nitrogen containing sections of a nucleotide that bond together to connect strands
for DNA
Antiparallel Strands: DNA double helix strands are antiparallel they have the same chemical structures but in opposite
direction.
3’ and 5’ refer to the number of carbon atom in a deoxyribose sugar molecule to which a phosphate group bonds.
One end = 5’ the other 3’.
Nucleotide Are organic molecules. They are the basic subunit building blocks of the nucleic acid polymers DNA/RNA
- Nitrogenous base (nucleobase) + phosphate group + (ribose/deoxyribose) sugar = Nucleotide
Nitrogenous DNA: They undergo the complementary base pairings: A and T with 2 hydrogen bonds, and G and C with 3
bases hydrogen bonds. RNA: Adenine and Uracil, Cytosine and Guanine
History of the DNA model: It was a double helix structure with a backbone made of sugar and phosphate with
nucleic acids/nitrogenous bases.
 Chloroplasts and mitochondria have their own DNA + Semi conservative half of the original is new, and half
is old.
Watson (biologist) and Crick (physicist) Franklin (x-ray crystallographer) and Wilkins
developed ideas about genetic replication. Shown that Wilkins produced DNA crystals (beginning the X-ray diffraction
in DNA: the double-stranded molecule could both images of DNA). Franklin found angles of diffraction using crystalised
produce exact copies of itself and carry genetic DNA to create a model (famous Photo 51 demonstrated the double-
instructions. helix structure).
DNA REPLICATION IN EUKARYOTES (in the nucleus): DNA replication occurs in the synthesis stage of interphase.
Topoisomerase Relaxes the strand in front of the replication fork, stops from super coiling. Type I: makes single-stranded
cuts in DNA, and type II enzymes, which cut and pass double-stranded DNA.
helicase the catalyse disrupts the hydrogen bonds that hold the two strands of double-stranded DNA together
(unzips DNA).
DNA Add in a 5 prime to 3 prime directions to the leading strand, only way it can fit the nucleotide on; builds and
polymerase replicates the DNA, other one lags behind, and the primers have to keep being placed, proof reading
meaning it rarely makes a mistake
 RNA multi-unit enzyme that synthesizes RNA molecules from a template of DNA through transcription.
polymerase
Primase 5’  3’ synthesizing short RNA sequences that are complementary to a single-stranded piece of DNA, which serves
as its template.
Leading strand single DNA strand that is replicated in the 3' – 5' direction (same direction as the replication fork). It runs in
a 5’3’ direction towards the replication fork DNA is added to the leading strand continuously, one
complementary base at a time.
Lagging strand is a single DNA strand that is replicated in the 5′ – 3′ direction. DNA is added to the lagging strand in
discontinuous chunks.
Okazaki are the short lengths of DNA that are produced by the discontinuous replication of the lagging strand
fragments
Exonuclease Knocks out the primer; cleaving nucleotides one at a time from the end of a polynucleotide chain.
DNA ligase Glues the DNA fragments together. an enzyme that uses ATP to form bonds.
Genes section of a chromosome which codes for a particular polypeptide (protein). A single chromosome contains
many genes.
Structure of DNA: is a long molecule with two strands twisted together to form a double helix. The DNA backbone is
made of alternating sugar and phosphate units. Nitrogenous base pairing are adenine-thymine and cytosine-
guanine. Free nucleotides present in the nucleus attach to the exposed bases on either strand by the enzyme DNA
polymerase. Semi-conservative DNA replication; two new strands are getting made.

DNA replication: essential for continuity of the species. Universality of code shows how groups have evolved from a
common ancestor.

INITIATION: Topoisomerase: relieve the strain on a twisted DNA helix + Helicase: uncoils and separations
complementary strands

ELONGATION:

1. Leading strand: DNA polymerase (III) adds nucleotides segments (primers) in the 5’ → 3’ towards the
replication fork. DNA polymerase also proofreads the strand to correct any base pair errors.
2. Ligase seals the gaps between DNA.

OR/AND

1. Lagging strand: RNA polymerase adds RNA primer to the strand, allowing DNA polymerase to bind.
2. DNA polymerase (III) adds Nucleotides next to the RNA primer in okazaki fragments.
3. DNA polymerase (I) replaces The RNA primer with DNA and corrects any pairing errors.
4. Ligase seals the gaps between DNA
5. The RNA primer moves to the next area, and the cycle repeats until the entire lagging strand is formed.
THEN: Strands recoil into a double-helix shape. 2 identical daughter strands produced

TERMINATION: The 2 new DNA strands each contain 1 old template strand and 1 new strand (semi-conservative
replication)

DNA and Polypeptide Synthesis: Why is polypeptide synthesis important? Gene/Genotype  gene
expression/protein synthesis  trait
 construct appropriate representations to model and compare the forms in which DNA exists in eukaryotes
and prokaryotes.
PROKARYOTE; unicellular/more primative. EUKARYOTE: more complex, membrane bound e.g., golgi
bodies.
DNA: Smaller, found floating in the cytoplasm in a dense nucleoid: Large/packaged into linear- thread like chromosomes,
regulatory centre of the prokaryotic cell regulating growth, present inside nucleus which is separated from the
reproduction and function). No membrane bound organelles. 1 cytoplasm by a double-layered membrane. It is tightly bound
chromosome/cell in a circular strand of double-stranded DNA (two to 8 histone proteins made of positively charged amino acids
circles of single stranded DNA twisted around each other) coding binding to negatively charged phosphates of DNA which
for proteins that will be made on ribosomes (non-compact). Have provides structural support for a chromosome forming
1+ small circular DNA rings of non-chromosomal DNA- plasmids nucleosomes which are condensed into chromatin. A large
(coding for not essential features providing with a selective amount of repetitive DNA is found in the genome. Contains
advantage). Chromosomal DNA is in tight supercoils around a noncoding DNA (98%)/introns: nucleotide sequence within a
central scaffold protein to form nucleoid. Genome is compact, gene that is not expressed controls gene expression. NO
contains repetitive DNA without any introns. Much less DNA/genes plasmids but contains Non-nuclear DNA e.g., Mitochondrial
than eukaryotes. Most don’t have histones. Conservative in respiratory organelles in cells /Chloroplast DNA. Multiple
replication. Undergo binary fission. Genes cluster into functional chromosomes per cell of a diploid (2n) or haploid (n)
groups (operon regions) e.g., E. coli (bacterium) Do not contain number. Semi-conservative replication. Undergoes mitosis.
membrane-bound organelles.
SIMILARITIES: chemically the same. double stranded DNA, twisted into a double helix and built from the same
nucleotides (adenine, thymine, cytosine and guanine- The genetic code is universal to instruct protein synthesis
making it possible to use prokaryotic plasmids as vectors). Have mRNA: acts as a code for building proteins with
uracil (U). The way mRNA is translated into amino acids and proteins is the same. Carry genetic information for their
development, functioning and reproduction. Undergo replication.

DIFFERENCES: structurally different affecting the way in which genetic information is transcribed, translated, and
expressed. No nuclear membrane to separate DNA from ribosomes, transcription and translation occur
simultaneously, whereas in eukaryotic chromosomes, which are confined to the membrane-bound nucleus, newly
synthesized mRNA molecules are transported to the cytoplasm to undergo protein translation. Most prokaryotes
reproduce asexually whereas sexually producing eukaryotes contain multiple chromosomes and diploid. Prokaryotic
cells contain 1+ plasmids (small circular, double stranded DNA molecule encoding nonessential genes that is distinct
from a cell’s chromosomal DNA. Are used as Vectors to clone, transfer, manipulate genes. DNA fragments/genes can
be inserted into a vector, creating a recombinant plasmid; factories to copy DNA fragments). Prokaryotic cells are
highly efficient because of space constraints leaving very little space is left between genes, thus noncoding in
prokaryotes = 12%, as opposed 98% in eukaryotes.
Feature prokaryote Eukaryote
Coding mRNA sequence contains coding sequence for multiple mRNA contains coding sequence for one gene
sequence genes. only.
RNA processing Rarely required/simpler (few introns to be spliced) Removes introns so only exons are translated.
 model the process of polypeptide synthesis, including: transcription and translation, assessing the
importance of mRNA and tRNA in transcription and translation, analysing the function and importance of
polypeptide synthesis, assessing how genes and environment affect phenotypic expression.

POLYPEPTIDE SYNTHESIS: amino acids are linearly arranged into proteins through rRNA, tRNA, mRNA, and various
enzymes. Converts the information in a DNA sequence into a chain of amino acids which then join together to form a
protein (1+ polypeptide chain which is composed of long chains of amino acids joined together by peptide bonds).
DNA (too big) cannot leave the nucleus because that would risk it getting damaged. Instead, it is transcribed to
mRNA which will relay the instructions.
 IMPORTANCE: for creating proteins to carry out different functions; allow for function/structure of cells
based on genetic information e.g., actin and myosin build muscles. Creates enzymes that control different
biochemical pathways happening inside cells e.g., cellular respiration. Forms products that are necessary to
carry out replication, transcription, and translation. Act as structural support, speeding up chemical reactions
and transporting substances. Transcription/translation need to be accurate as error can lead to the incorrect
amino acid being added (affects protein function). A gene is a portion of DNA with a specific sequence of
bases encoding for a particular trait at a locus on a chromosome and determines phenotype, behaviour,
function.
 ROLE: make the necessary proteins from the gene through transcription/translation into a polypeptide.

Ribonucleic acid: Single helix made of A, G, C and Uracil, Ribose sugar. Converts DNA information into proteins,
doesn’t replicate. rRNA: Form the ribosome assures proper alignment of mRNA, forms ribosome subunits needed to
translate mRNA into a polypeptide chain.

Importance of mRNA/tRNA: In transcription, the mRNA (holds information for precise synthesis of protein which is
decided by codons) strand forms from the template strand as read by RNA polymerase. This is then sent out through
the nucleic envelope towards the ribosomes. Without mRNA, the DNA code specifying the sequence of amino acids
would not form. In translation, tRNA (carries of amino acids: backbone of proteins) is attracted into the ribosome to
deposit their corresponding amino acids onto the polypeptide chain. Without tRNA, the mRNA sequence could
 not be converted into a distinct sequence of amino acids. Protein is an essential part of the human body as they
carry out many different functions. mRNA and tRNA are crucial for ensuring that the gene is transcribed and
translated.
FEATURE mRNA (messenger RNA) tRNA (Transfer RNA)
Description Instructs amino acid assembly by the ribosomes to Single stranded nucleic acid (ribose sugar,
make specific proteins (corresponds to the genetic phosphate group) folded into three loop
sequence of the gene). They are single stranded structure with an anticodon (three bases
RNA (ribose sugar, phosphate group), short. 3 complementary to a mRNA codon)
mRNA bases = 1 codon carrying information from corresponding amino acid attached. Carries
the DNA to the ribosomes; transcribed by DNA amino acids to the ribosome. Each individual type of tNRA has
template for transportation to ribosomes for an amino acid binding site that will bond specifically to its own
translation. amino acid.
Role DNA doesn’t leave nucleus; gene sequence is tRNA translates the mRNA sequence into amino acids for
transcribed into mRNA. protein synthesis.
importance transports genetic code from nucleus to ribosome. carries specific/correct amino acids to the ribosome and
matches the correct anticodons to codons for polypeptide
synthesis.
TRANSCRIPTION (in the nucleus): genetic information is transferred from a double helical DNA to a single stranded
mRNA (that is complementary to the DNA sequence). Is necessary for carrying out translation where proteins are
produced (required for functioning).

1. Transcription initiation: RNA Polymerase binds to the ‘promoter’ and the DNA double helix unwinds
(hydrogen bonds between nucleotide base pairs of the 2 anti-parallel strands are broken) forming a
transcription bubble. ‘non-coding strand’/template (3’ to 5’) has the genetic information to make a protein,
the other is the coding/antisense strand (5’ to 3’). Only a certain length uncoils.
2. Elongation: RNA polymerase adds free ribonucleotides in nucleus to their complementary DNA nucleotides
along template strand.
3. Termination: RNA polymerase continues to add ribonucleotides until it reaches a stop sequence. The mRNA
sequence is known as the pre-mRNA (5’ to 3’). RNA polymerase detaches from the DNA. Base pairing is
restored and the DNA twists back into a helical structure. The complete mRNA molecule moves out of the
nucleus into the cell’s cytoplasm.
4. POST-TRANSCRIPTIONAL MODIFICATION: Non-coding DNA (introns) are cut out via splicing (spliceosome)
and coding regions/exons are joined together (by ligase) to create mature mRNA which are then translated
into the polypeptide. The mRNA transcripts can pass through the pores in the nuclear membrane, out of the
nucleus and into the cytoplasm. The mRNA exposed to the cytoplasmic environment is at risk of being
destroyed by cytoplasmic enzymes, ribonuclease. To avoid this the 5’ end gets a methyl guanosine cap and
the 3’ end gets a poly (a) tail. Alternative splicing gives rise to different versions of the same protein. Non
coding DNA affects the shape of chromatin and how tightly DNA is wound around histones.

TRANSLATION (mRNA  proteins): occurs at ribosomes (free in the cytoplasm/attached to endoplasmic reticulum).
Each codon codes for a specific amino acid. Order/number of amino acids determines protein function.
1. INITIATION: small ribosomal subunit binds to the start of the mRNA sequence. tRNA carrying methionine on
the anticodon binds to the start codon (AUG) beginning the amino acid sequence.
2. ELONGATION: ribosome moves along the mRNA and keeps adding amino acids based on the codon. tRNA of
the next codon lands and a polypeptide bond is created between amino acids. Cycle continues as the
polypeptide chain elongates. The ribosome has 3 sites. A site = new tRNA molecules enter the ribosome. P
site = peptide bonds are formed. E site = exit site from which empty tRNA molecules whose amino acids have
already bonded exit the ribosome.
3. TERMINATION: chain keeps elongating until a stop codon is detected. Stop codons releases polypeptide
chain from the P site by releasing chemicals. Amino acids are linked by peptide bonds which then folds into a
protein. mRNA is broken down into individual nucleotides to be reused.
EFFECTS OF ENVIRONMENT ON PHENOTYPIC EXPRESSION: conditions will affect that appearance of an organism
(internal/external anatomy, behaviour and physiology) and the appearance of individual cells. Factors mask/change-
permanently or temporarily) the growth certain aspects of the organism, affecting phenotype. e.g., light,
temperature, nutrient availability, water etc. PLANTS: hydrangeas have different flower colours depending on the soil
PH. PH less than 5: blue and alkaline: pink. pH causes a change in the shape of the active site of an enzyme,
increasing or decreasing its binding with the substrate (affecting function). ANIMALS: coat colour of Siamese cats is
determined by a colour mutation (allele C = uniform fur pigmentation). Cats that are homozygous recessive for the
mutant allele c have dark pigmentation at the tips of their ears, tail, legs and face (areas of poorer circulation, lower
temperatures = pigment, more circulation = no pigment). REPTILES: gender is determined by temperature during the
egg incubation period (80-90 days) thermosensitive period (TSP) between 25-50 days (influences the expression of
the sox9 gene  sex determination). Saltwater crocodiles if the eggs are kept at 32+ = male, those kept at 31- =
female.

GENOTYPE (essential for functioning of an organism): genetic constitution of an organism (a particular set of alleles)
which affects phenotype. Gene: section of DNA that codes for a polypeptide. Gene expression allows the section of
the DNA molecule to switch on, causing the polypeptide to be produced forming a protein (essential for cell function,
physiological, physical appearance). Skin colour is affected by the amount of melanin produced (more melanin =
darker skin/more protected from UV- genes control amount of melanin). Genes will only express traits if the
environment is suitable. EFFECT OF GENES ON PHENOTYPIC EXPRESSION:
 Dominance: In heterozygous genes, when one allele dominates/obstructs the expression of another allele.
 In-complete dominance: Both alleles are partially expressed (neither dominant)- Flowers having red/white
alleles are pink.
 Co-dominance: when both alleles are simultaneously expressed in a heterozygous gene pair e.g.,
black/brown cow coats.

GENE EXPRESSION: is the translation of genes into their protein products from a specific code. Some genes are
turned on/off so that they are able to differentiate and perform specialised functions. A gene is fully expressed when
its polypeptide is synthesised into a fully functional protein. Eukaryotic cells must permanently turn on and off genes
in differentiated cells.
1. DNA TRANSCRIPTION: by RNA polymerase control point for gene expression. In eukaryotic cells, each gene
has its own promoter, which may be activated by the presence/absence of a chemical. It has control
elements that bind to transcription factors and the promoter to initiate the RNA polymerase. Protein factors
influence whether mRNA elongation continues/terminates. If production/binding of transcription factors is
affected, gene expression will be affected.
2. TRANSLATION: can be blocked if specific proteins bind to the mRNA so that it cannot attach to ribosomes.
After translation, protein product made from mRNA may be inactive until a chemical is added/removed,
regulating phenotypic expression.
3. PROTEIN PROCESSING/DEGRADATION: (before mRNA leaves nucleus): polypeptides must be processed (by
folding, cleavage (cutting) or the addition of non-protein sections; carbohydrates/lipids) to produce
functional proteins. The processed protein then is transported to its site of action. Regulation may occur if
any of these steps is inhibited. Defective/damaged proteins are degraded.
4. REGULATION OF M-RNA: Before the mRNA leaves the nucleus, splicing (controlled by regulatory proteins)
occurs where introns are cut out, exons are joined together, producing the mature mRNA that will be
translated. To change expression of genes you can treat different segments as introns or exons, producing
different mRNA molecules from the same RNA transcript. Introns can play a role in either retaining
RNA/allowing it to move to cytoplasm. Regulating the length of time for which mRNA remains stable. The
longer an mRNA molecule lasts, the more protein will be translated. If the mRNA degrades more quickly, less
protein will be made. miRNA can silence mRNA after transcription by: Cutting RNA, Making RNA unstable by
shortening its poly(A) tail, Interfering with translation.

Regulation of genes for phenotypic expression: gene expression is switching on/off genes as needed regulated at
various stages of DNA transcription into RNA and its subsequent translation into proteins. Epigenetics explores how
chemical modifications to either the histones or the chemical structure of DNA (without changing base sequence)
may affect the density of DNA binding and change the way genes are expressed (on/off). e.g., Tightly bound DNA is
inaccessible to RNA polymerase (enzyme that starts transcription). Gene tagged with a methyl group (CH3)  DNA
becomes more tightly coiled around the gene’s histone repressing transcription (switched off- loss of methylation
activates genes). Adding an acetyl group (COCH3)  DNA to be more loosely packed (easily accessible for RNA
 polymerase) around the histone proteins, allowing transcription to occur (gene ‘switched on’, increased polypeptide
synthesis). Influenced by diet, environmental exposure to chemicals, emotions. In rats: mothers licking baby rats
makes them less anxious (might be a survival trait where food is scarce, and danger is high as they respond quicker
to stress). Genes that are permanently switched off may be packed very tightly or highly condensed around histones.

 investigate the structure and function of proteins in living things.

RNA enzyme that catalyses the chemical reactions that synthesize RNA from a DNA template
polymerase
Ribosome structure inside cells that is involved in making proteins, help to link amino acids together to form proteins.
Coding strand DNA strand whose base sequence is similar to its primary transcript (RNA)
Template DNA sequence that can duplicate itself during mRNA synthesis. Uses a non-coding DNA sequence as a
strand template (mRNA).
Codon Set of 3 sequences of bases give the instructions for the type of amino acids.
Anticodon a trinucleotide sequence located at one end of a tRNA, which is complementary to a corresponding codon.
Peptide short chains of amino acids linked by peptide bonds. A polypeptide is a longer, continuous, unbranched
peptide chain.
PROTEIN (macromolecules): important structural components of cells, cell membranes and tissues, made from
amino acid. Chemical structure: C, H, O and N, combining to form amino acids held by peptide bonds into
polypeptides (simple organic compound containing both a carboxyl (—COOH) and an amino (—NH2) group).
Hydrophobic amino acids have carbon-rich side chains which don’t interact well with water. Hydrophilic/polar amino
acids act well with water. Charged amino acids interact with oppositely charged amino acids or other molecules.
Arrangement of amino acids = configuration/bonding of proteins.
- Polyribosomes: Multiple ribosomes can form parts of the polypeptide chain, come together to form a
complete chain.
- Protein conformation: 1+ polypeptide chains can be structurally modified in the golgi apparatus to form
specific proteins.

PROTEIN FUNCTIONS: specific amino acid sequences give proteins their distinct shapes and chemical characteristics.
Shape is important because many proteins rely on the recognition of specific 3D molecular shapes to function
correctly. Transporting nutrients, helping chemical reactions throughout the body, other build structures. Held
together by hydrogen bonds.
TYPE OF PROTEIN FUNCTION OF PROTEIN
Neurotransmitters Cell communication/signalling /biological recognition: cells communicate via chemical signals.
st nd
(1 /2 ) OR Antibodies Some proteins embedded in membranes form channels to carry substances essential for cell
(Immunity) = defence functioning e.g., fluid mosaic model.
proteins recognise Cell signalling/biological recognition: e.g., hormones (messengers- chemical messengers which
foreign invaders by their coordinate cell activity) act as chemical messengers between cells about the environment, and
antigens and bind with triggers responses in the target cells functioning. Receptor proteins in the membranes are
them to signal that responsible for receiving these signals. Biological recognition between chemical messengers and
invading antigen to be their target cells is essential. Some receptors act as markers that allow a body to recognise its own
destroyed. cells and cells of foreign invaders .
Amylase has specific Biocatalysts/Enzymes: Bind with substrates to speed up biochemical reactions/cellular metabolism.
catalytic site that begins Shape of active site determines binding. Important in gene functioning, replication, repairing and
the breakdown of transcribing.
carbohydrates in salvia.
(3rd)
Regulatory Control DNA replication and turn on genes.
Opsins in the retina that Sensory: proteins change their shape/biochemical activity in response to stimuli. Help as detect
detect light. Light energy light, sound, touch, smell, taste, pain, and heat.
 electrical/chemical
signals.
Collogen (forms strong/ Structural: forming structure of cells. Facilities support/movement: fibrous. Found in connective
flexible triple helix for tissues e.g., skin (structural) OR contractile proteins allowing movement e.g., actin and myosin allow
support.) muscles to contract.
Haemoglobin Transport (assist in the movement of substances)/storage proteins (serve as biological reserves for
 (quaternary): attracts to metal ions and amino acids.): bind to and carry/store chemicals in the body-
oxygen and releases it at Storage: stores chemicals for use. ferritin forms a hollow shell that stores iron.
areas of low Transport: transports oxygen. Calcium pump moves ions across cell membranes allowing
concentration. Ferritin contraction of muscle.
(2nd)
Collagen (quaternary) Growth and repair: repair/build body's tissues, allows metabolic reactions to take place and
coordinates bodily functions.
PROTEIN STRUCTURES: proteins catalyse chemical reactions to build the structures of living things and are made out
of the same 20 amino acids. Having the correct shape is vital to be able to recognise and bind to specific molecules.
Primary A polymer of amino acids arranged in linear chains/polypeptides. Sequence defines how the protein will fold and
function. Primary structure determines all others. E.g., in sickle cell anaemia amino acid glutamate is replaced with
valine distorting the shape of the haemoglobin protein.
Secondar 3D arrangement of polypeptide chain, amino acids are linked by hydrogen bonds, twisting into a spiral (alpha helix-
y coiled structural arrangement of proteins stabilised by hydrogen bonds- fibrous protein) or folding into a pleated beta
sheet (beta strands connected laterally by 2-3 backbones of hydrogen.
Tertiary Folding of secondary structure into distinct arrangement (domain)- compact globular shape, with many carbon-rich
amino acids sheltered inside away. Forces of attraction between alpha helices and pleated sheets. E.g., The folded
structure of haemoglobin includes a pocket to hold heme. Folded 3D structure. Determines ability to bind tightly and
specifically with molecules.
Quaterna Two or more polypeptide chains can come together to form one functional molecule with several subunits. The four
ry subunits of haemoglobin cooperate so that the complex picks up and delivers more oxygen than is possible with a
single subunit.
PROTEIN CLASSIFICATION:
FIBROUS GLOBULAR
Shape Long and narrow Spherical
Purpose Form the Structural components of cells and tissues. Functional
Acid Repetitive amino acid sequence Irregular amino acid sequence
sequence
Durability Less sensitive to changes in pH temperature, etc. More sensitive to changes in pH, temperature etc.
Examples Usually found in tendons and ligaments. Collagen- Usually transportation proteins e.g., haemoglobin,
coiled/ strong- found in skin with elastin, keratin- hair insulin, immunoglobin, Enzymes
and nails.
Genetic Variation- Inquiry question: How can the genetic similarities and differences within and between species be
compared?
 Within a population (intraspecific): Similarities show common ancestry, Differences show genetic diversity
due to genetic variation
 Between populations (interspecific): Similarities show evolutionary relationships, Differences show species
diversity due to variation.

Predict variations in the genotype of offspring by modelling meiosis, e.g., crossing over of homologous
chromosomes, fertilisation, mutations.
The behaviour of chromosomes during meiosis can be used to predict the variation (crossing over of homologous
chromosomes, independent assortment and random segregation during meiosis, fertilisation and mutations) in the
genotypes of offspring. Modelling the number of combinations for humans each egg and sperm has 2 33 possible
combinations and the resulting diploid has (233)2 possible variants (not considering the genetic recombination that
occurs during crossing over, or the random nature of fertilisation).
Heredity Is the set of characteristics that living things inherit from their parents; passed down by the DNA in the parent
gametes
Genes hereditary unit/set of instructions that controls a particular characteristic, made up of section of DNA. Comes
in different forms (alleles)
Gene pool complete set of alleles (gene variations) in a species.
Genetic diversity: total of all the genetic characteristics in the genetic makeup of a species.
Genotype combination of alleles present in an organism; usually represented with two letters (from mother and father)
eg. Aa or hh
Genome genes and DNA in the nucleus of an individual organism/ complete set of genes or genetic material present in
 a cell or organism.
Phenotype The appearance of the organism and based on the genotype; set of observable traits (structure, behaviour,
physiology).
homozygous having two of the same alleles for a trait (in a genotype) eg. AA, tt, BB or ee
heterozygous Two different alleles present in the genotype; represented with a capital letter and a lower case letter eg. Tt
or Aa
Dominant form of a gene that masks the expressed of recessive alleles when present together; represented with a
capital letter eg. A, H or B
Recessive allele Lower case letters of the dominant gene; allele that will not be expressed when present with the dominant
allele; eg. t or a
Pedigree/Punnett Is a model that can be used to track the inheritance of genetic traits through generations. An understanding
squares of Mendelian inheritance allows farmers to combine pedigrees with Punnett squares to predict the likely
genotypes + thus the phenotypes of the offspring.
SOURCES OF VARIATION
Source Effect
Meiosis: Crossing Alleles are exchanged between non-sister chromatids on homologous chromosomes, which results in new
over (prophase) combinations of alleles on a chromosomes, producing new variation of genotypes at loci across
chromosomes upon fertilisation.
Independent Genes and alleles of one trait are inherited independently of the genes and alleles of another trait. This
assortment produces new variations of genotypes at loci across chromosomes upon fertilisation.
(metaphase I)
Random segregation Alleles of the same gene separate randomly and equally into daughter cells. This produces new variations
(anaphase I) of genotypes at loci across chromosomes upon fertilisation.
Random fertilisation Union of non-identical male and female gametes fuse to create an offspring with a unique combination
Mutations Are a change in the DNA sequence, a mutation can occur during meiosis to produce a new allele in a
gamete. The mutant allele will combine with an allele in another gamete at fertilisation to produce a new
genotype at the gene locus.
 model the formation of new combinations of genotypes via meiosis, including: interpreting examples of
autosomal, sex-linkage, co-dominance, incomplete dominance/multiple alleles, constructing/interpreting
information/data from pedigrees/Punnett squares
In diploid organisms, chromosome exist as homologous pairs (consists of a paternal and maternal chromosome
inherited at fertilisation), each having a copy (allele) of a gene at every locus. The genotype is the combination of
two alleles for a particular gene, while the phenotype is the physical expression of the genotype.
Dominant/recessive: pea plants the round seed allele (R) is dominant over the recessive wrinkled seed allele (r).
Therefore, both RR and Rr plants would have identical ‘round seed’ phenotypes. All plants with wrinkled seeds must
be homozygous recessive (rr).

Punnett squares: can determine the likely genotypes and phenotypes of offspring, parental genotype and phenotype
based on the observed phenotype of offspring, and which allele is dominant/recessive, by comparing phenotypic
outcomes.

Autosomal recessive: autosomal inheritance relates to genes that are on non-sex chromosome (equal likelihood that
a trait will be observed in the phenotypes of each sex). E.g., cystic fibrosis and sickle cell anaemia. Both parents of an
affected person must carry at least one copy of the recessive allele. If they are heterozygous (Tt), they will express
the dominant allele in their phenotype and are carriers.

Autosomal dominant: traits rarely skip a generation. Affected offspring always have at least one affected parent and
at least one copy of the dominant allele e.g., Huntington’s disease. Note: when two parents express a trait and they
have any offspring without the trait, then both parents must be heterozygous and the trait must be dominant.

Multiple alleles: inheritance occurs when there are three or more possible alleles for a gene. While the genotype of
an individual will only ever have two alleles at a locus, there is a higher number of possible genotypes (and hence
phenotypes) at the locus. E.g., the ABO blood group is an example of multiple allele inheritance. The three alleles I A,
IB and I can give rise to six different genotypes (IA i, ii, IBi, IBIB, IA IA, IAIB) which in turn are expressed as one of four
phenotypes (blood types: A, B, AB, or O). O blood is recessive. A and B are codominant. Blood has proteins on its
 surface, O can give to everyone/receive from O, B has B antigens, can accept B blood type but not AB blood type), AB
(express both sugars (A/B) on the surface of their red blood cells) receive all blood.

Polygenic inheritance: determined by more than one gene and by the interactions among the different alleles of
these genes. The gene are often situated on different chromosomes e.g., skin colour, eye colour and height. The
different combinations of alleles that result from fertilisation have an additive effect on the phenotype e.g., height is
determined by three different genes each with 2 possible alleles.
Sex-linked refers to genes on the sex chromosome (23rd). The male is hemizygous and determines the offspring’s sex. Sex-
characteristics linked traits are represented by a superscript letter above the relevant chromosome. If the trait is X linked then
females have 3 possible genotypes, XT XT (normal), XT Xt (carrier), or Xt Xt (with the recessive trait), males only
have two possible outcomes: XTY and XtY.
Example: Ornithine transcarbamylase (OTC) deficiency is an X-linked recessive condition caused by a mutation in
the OTC gene on the X chromosome (normally produces an enzyme which breakdowns/ removes ammonia). The
disease results in the accumulation of ammonia in the blood, which travels to the brain, causing coma, brain
damage and death.
Outcome: Males only have to inherit a single gene to have the characteristic.
Co-dominance Codominance: occurs when both alleles of a gene are fully expressed in the
+ Incomplete phenotype of a heterozygote. Examples: AB blood group and red-white
dominance hair colour in cattle e.g., Roan cattle (CR C W). In cattle if an individual with
two red alleles (RR) is mated with an individual with two white alleles
(WW) all F1 offspring will be roan (RW) where both red and white hairs are
present (genotype can easily determined based on its phenotype).
Incomplete dominance: occurs when neither allele is expressed fully in the
phenotype instead a third phenotype with blended characteristics is seen.
3 phenotypes from 2 alleles. E.g., flower colour in snapdragons. When a homozygous red-flowering plant (RR) is
crossed with a homozygous white-flowering plant (WW) all F1 offspring will have pink flowers (RW).
Pedigree to determine co/incomplete dominance: three different phenotypes are present, If both parents are
heterozygous offspring can have any one of the three phenotypes, If each parent is homozygous for different
alleles, then all offspring will be heterozygous.
allele variations of a gene at particular locus (location). Alleles for a common trait are found on the same locus of a
chromosome.
autosomal trait coded by a gene located on a non-sex chromosome. Autosomal inheritence: Inheritance on germline cells
on the 1st - 22nd pairs of chromosomes code for body characteristics. In a specimen, there is a gene for each
trait, 2 variations called alleles (dominant or recessive). Dominant alleles are always shown over recessive ones.
nondisjunction incorrect separation of chromosomes during meiosis that results in cells with extra/missing chromosomes
SEX LINKAGE: Inheritance on germline cells where the genes inherited are on the 23rd pair of chromosomes. Due to
a mutation, an autosomal gene can be transferred to the X chromosome of the 23rd (sex) pair. X-linked gene. Only
carried on the X chromosomes. X-chromosomes can be dominant or recessive, whereas Y chromosomes are always
recessive. Therefore, a female can be a carrier and males cannot. If the allele for a sex-linked disease is recessive (e):
XE = dominant f. allele (most dominant); Xe = recessive f. allele; Y = m. allele (most recessive)
Genotype Alleles Gender Phenotype
E E E
X X X Normal
Xe Xe Xe Female Diseased
E e E e
X X X X Carrier
XE Y XE Y Male Normal
e e
X Y X Y Diseased
PEDIGREES: visual chart that shows family lineages, relationships and the phenotypic expression of a chosen trait.
Can be used to determine the type of inheritance, and genotypes of individuals in the lineage, and predict the
likelihood of offspring having the trait.
1. Is there anyone whose phenotype is different to both of their parents?
a. Yes, then that person is homozygous and the parents are heterozygous
b. Do they exhibit the trait (shaded symbol)
i. If yes, then the trait is caused by homozygous recessive alleles.
ii. If not they don’t have the trait then the trait is caused by a dominant allele
 2. Determining sex-linkage: males are more likely to be affected than females, if the mother has the trait, her
sons will have the trait. If a daughter has the trait, the father must also have it and mother either has it or is
a heterozygous carrier.

Autosomal dominant pedigrees: can’t skip generations, unshaded individuals are all homozygous recessive. Shaded
individuals are heterozygous or homozygous dominant. When two parents have the trait and their child doesn’t it
must be dominant.

Autosomal recessive pedigrees: can (but don’t have to skip generations, shaded individuals are homozygous
recessive). Two parents that don’t have the trait but the child does = recessive and the parents are both
heterozygous.

X-linked recessive pedigrees: can but don’t have to skip generations, male only need one copy of the gene to show
trait, if the female has it all of her sons will have it, in order for a female to get it, her father must have it.
X-linked Male with trait: Passes onto all daughters but no sons. Female with trait: Passes to both daughters
dominant and sons
X-linked Male with trait: All daughters are carriers Female with trait: All sons are affected
recessive
 Collect, record and present data to represent frequencies of characteristics in a population, in order to
identify trends, patterns, relationships and limitations in data, for example: examining frequency data +
analysing single nucleotide polymorphism (SNP)
MEDELIAN INHERITENCE: patterns can be observed in frequency data in Gregor Mendel’s pea breeding experiments.
Mendel carried out crosses of pea plants. Mendel created ‘pure bred’ (homozygous dominant and homozygous
recessive) plants for each characteristic. He then crossed these ‘pure breed’ plants (P generation). From the resulting
phenotype of the offspring (F1 generation), he was able to determine which ‘factor’ was dominant and which was
recessive e.g., tall masked the ‘short factor’ (100% of the first generation of offspring is tall). Mendel observed the
offspring of an F1 cross always produced offspring (F2 generation) in a 3:1 phenotype ratio (25% of offspring express
the recessive allele). Mendel’s dihybrid cross experiments always produced offspring in 9 (round, yellow):3(round
green):3(wrinkled, yellow):1 (wrinkled green) phenotype ratio. Patterns such as these can be used to predict the
outcome of crosses in different contexts. However, there are limitations in the data for inheritance studies (patterns
cannot be observed in more complex polygenic traits).
 Law of segregation: each gamete made will get just one of the two gene copies present in a parent organism
at random.
 Law of independent assortment: alleles of two or more different genes are sorted into gametes
independently of one another.
 In meiosis one when the pairs line up in random orientations meaning you can get different random
arrangements. Genes that are on different chromosomes and far apart on the same one assort
independently but when close together alleles tend to be linked.

SINGLE NULCEOTIDE POLYMORPHISM (SNPs): point mutation (usually due to an error in DNA replication) that is
present in more than 1% of the population (biological markers helping scientists to identify alleles associated with
specific diseases/determine ancestry). Each individual has two copies of each SNP, one on each homologous
chromosome (SNP’s occur every 300 nucleotides). SNPs can be associated with phenotypic change e.g., disease
susceptibility if they occur in coding regions of DNA thus can indicate a disease probability.
 Genome-wide association studies (GWAS): tries to identify genetic variations/specific markers associated
with a particular disease. Are large scale collabrative projects between genticists, medical clinicans,
bioinformaticians that use genetic data sets to identify a relationship between a SNP/gene that is associated
with an increased risk of developing a disease or disorder. GWAS use SNPs as markers to identify genes that
sit physically close to them on a chromsome. If a SNP is close to a gene, a SNP allele will always be inherited
with the same gene allele on a haplotype. This is because the combinations will not be broken up by crossing
over. If one allele of a SNP is overrepresented in the cases relative to the controls, this suggests that the SNP
sits physically close to a gene that is contributing the the phenotype of the disease or disorder.
 SNP analysis: much faster and cheaper compared to whole genome sequencing.
  Significance: important genetic markers to distinguish and compare individuals. Look for trends in
prevalence of certain SNPs and disease susceptibility in individuals. Can lead to hypothesising that certain
SNPs is associated with a disease (not a diagnosis).
 Disadvantages: larger sample size = more confidence in associating a SNP with a certain disease, Genetic
marker selection: the closer the genetic markers are on the chromosome, the more accurate the data,
Mitochondrial DNA is very useful to analyses as each sequence only has one allele and MtDNA changes more
rapidly than nuclear DNA, meaning population difference is easier to see.
Lactose tolerance in humans- frequency data was used to identify a relationship between a specific SNP and the
ability to consume dairy products. Lactase enzyme is produced in babies to break down lactose. In our ancestors, the
LCT gene that expresses lactase was ‘switched off’ after a child was weaned (lactase non-persistence gave rise to the
lactose intolerance phenotype). Approximately 10000 years ago in northern European, a mutation occurred in the
LCT gene that coincided with the domestication of livestock, stopping the LCT gene from being ‘switched off’ and
allowed individuals to continue consuming dairy products. This lactase persistence (LP) allele is dominant over the
LNP allele and provides an adaptive advantage due to the opportunity it provides for increased nutritional uptake.
Mutation is present in approximately 30% of the world population, mainly in people of European descent. A
limitation of the LNP study is that it can be difficult to tell whether the SNP causes a condition or simply co-
segregates with a gene it is sitting next to. Study makes assumptions about the ethnic background of people.

Inheritance Patterns in a Population: Can population genetic patterns be predicted with any accuracy?
Technologies have been developed to quickly/accurately sequence DNA. The data can be used in large scale
collaborative bioinformatics studies in various fields.
 investigate the use of technologies to determine inheritance patterns in a population using e.g., DNA
sequencing and profiling
Polymerase Chain reaction: used to make copies of a particular region of DNA. (1) Extract DNA from cells. (2) PCR
makes millions of copies of the DNA region of interest. (3) The sample is used for gene cloning, DNA
sequencing/profiling. PCR: (1) Denaturation: heat the double stranded DNA to 95 degrees for 1 minute, DNA strands
separate as hydrogen bonds are broke. (2) Annealing: cool to 50-60 degrees for 1 minute, primers anneal to
template strand. (3) Elongation: heat to 72 degrees, the polymerase synthesises new DNA. (4) cycle repeated many
times.

A PCR consists of a DNA sample, primers (short single stranded pieces of DNA) that are complementary to either end
of the DNA region to be amplified, free nucleotides- deoxynucleotide trisphosphates (dNTPs; A,T,C,G), Taq (active
enzyme) polymerase (DNA polymerase capable of functioning at high temperature during PCR), a buffer to maintain
a stable pH and magnesium chloride (MgCl2). Ingredients are placed into a PCR tube which is then inserted into a
thermocycler machine. A thermocycler uses variations in temperature to control the DNA synthesis process and
repeated 30-40 times. After each cycle the quantity of DNA is doubled. PCR can be used as an insert to clone a gene
(recombinant DNA), used as a marker in DNA profiling studies or sequenced to identifiy a SNP or genetic mutations
(disease/medicine, evolutionary studies).

Gel electrophoresis: seperates segments of DNA bases on their size (length). Simpliest type is agarose gel
electrophoresis. Liquid agarose which contains a dye that binds to DNA is poured into a casting chamber. The gel is
submerged in a buffer solution and the DNA samples are loaded into wells at the negative electrode ends. An electric
charge is applied, the buffer conducts electricity and the negatively charged DNA molecules travel through the pores
in the gel towards the positive temerinal. The shorter fregaments migrate faster and further than the larger
fragements of DNA. The dye in the gel binds to the DNA which is illuminated with blue or UV light. Electrophoresis is
routinely used to confirm that the correctly sized PCR product has been amplifed by comapring it to a size standard
or marker, or it can be used as a diagonostic tool. e.g., cystic fibrosis (CF) . Individuals who have CF will have a single
band appear that is three bp shorter than a normal healthy control.

Capillary electrophorsis: specialised gel electrophoresis in which DNA migrates through small capillaries containg a
gel polymer. The DNA is first labelled with different-coloured fluorescent dye. Has a very high resoltion of one base
pair. The dye on the DNA is excited by a laser as it passes a small window in the machine and this releases a colour
that is detected by a reciever and interpreted by software. It is used to visualise the products of STRs in DNA profiling
or the products of a DNA sequencing.
DNA sequencing: process of determing the exact order of nucleotides in a segment of DNA (sequence a PCR product,
confirm a cloned gene has the correct sequence or do whole genome sequencing). The main method is the Sanger
sequencing, which is similar to PCR. Differences: (1) a sequencing reaction has only one primer which means there is
no exponential amplification. (2) in addition to the four dNTPs the reaction contains four modified verisions of the
nucleotides called dideoxynucelotide triphosphates (ddNTPs). Each ddNTP is modified with a fluorescent dye (C =
blue, G = black, A = green and T = red) and they each terminate the reaction when they are incorporated into the
growing DNA strand. Each piece of DNA emits a colour as it passes the laser in a capillary electrophoresis machine.
Shown on a chromatograph.

Can be used to study the inheritence of disease-causing mutations or to create a phylogenetic tree (presents
evolutionary relationships among a set of organisms, created by sequencing a gene e and comparing the sequence
between species. DNA is like a ‘molecular clock’, which means genetic change accumulates at a relatively constant
rate) to show the evolutionary relationship between species (scienfic research). Closer related species = more similar
genetic sequences. Takes longer to gather details and more expensive.

DNA profiling: used to generate a specific DNA pattern of an individual that can then be matched to a known
control. DNA profiling relies on highly polmorphic genetic markers such as short tandem repeats (STRs) and
microsatellites. The number of repeats can vary between alleles in the same individual and between individuals.
STRs are normally several hundred pairs long.

A person with an equal number of repeats on both aleles will have one product in the PCR (homozygous) while a
person with a different number of repeats on each allele (heterozgyous) will have two products in the PCR. Paternity
uses a single STR locus, as the mother and father share an allele with a child. In a case with two potential fathers, it is
noted that alleles can be shared by chance so additionary STR locis should be tested. Can be used to match a suspect
to a crime scene.
1. Take a sample of cells from the child, and possible fathers e.g., cheek cells, hair follicles. Extract the DNA
from the cells.
2. Use a PCR to amplify regions of interest. The repeat polymorphisms and STRs are compared within samples.
3. Each DNA sample is seperatred using gel electrophoresis (larger molecules move more slowly than smaller
molecules. Creates an electric field across the gel. The DNA is negatively charged so moves towards the
positive electrode).
4. The bands are analysed. By isolating DNA/comparing the regions you can tell which individuals are related.

 investigate the use of data analysis from a large-scale collaborative project to identify trends, patterns, and
relationships, for example: the use of population genetics data in conservation management, population
genetics studies used to determine the inheritance of a disease or disorder, population genetics relating to
human evolution.
POPULATION GENETICS: study of how the gene pool of a population changes over time (attempts to explain genetic
diversity in present populations and the changes in allele and genotype frequences (can make predictions about how
populations adapt to their environments) over time- depends on mating patterns, population size and distribution,
mutation, migration, and selection). The genetic similarities/differences within/between species can be observed at
the phenotype, genotype, allele or molecular level.
 Gene pool: sum total of all the genes and their alleles within a population.
 Genetic diversity: total of all the genetic characteristics in the genetic makeup of a species. It is dependent
on genetic variability.
 Genetic variability: tendency of individual genetic traits of a population to vary. Genetic variability is
determined by analyzing the relative proportion (ratio or percentage) of a given phenotype, genotype or
allele within that population.
 Analysis/Data Collection: Allele frequency is a measure of how common an allele is within a population.
no . of copies of allele ( G ) ∈the population
Frequency of allele G = . (when genes are mutli-
total number of copies of the gene ( G+ g ) ∈the population
allelic (more than two allele variants per gene), calculate the total number of copies of the gene by adding
together all the different alleles (A, B and O).
LARGE SCALE DATA SETS: analysis involves information from multiple data sets that were generated individually in
very different ways. The rapid growth of technology has increased availability of very large scale data sets improving
the reliability of data analysis process. These allow for the scientific community to research, exploring patterns,
trends/relationships.

Conservation management: Conservation genetics relies on gathering genetic data, for biodiversity conservation and
to make informed decisions about protecting endangered populations. SNPs have been instrumental allowing
scientists to identify segments of the genome that are essential for the organism’s adaptation to the environment.
Koalas are in serious decline suffering from the effects of habitat destruction, domestic dog attacks, bushfires and
road accidents with estimates of less than 57, 920 Koalas left in the wild.
 Koala conservation method: A large number of tissue samples were obtained from many wild koalas. The
mitochondrial DNA of each tissue sample was analysed to determine the base sequence in a non-coding
section of mtDNA called mtDNA CR.
 Analysis & Results: A haplotype network which outlined the genetic diversity of the koala population in
different groups was generated. These results were then related back to the regions that these koala groups
were found in (Queensland and NSW). This was converted to quantitative data comparing mtDNA CR
sequences between koalas found in those different regions.
 Implications: allowed scientists to trace/compare lineage amongst different Australian koala groups to
better understand microevolution. Can also be used to identify koala genetic diversity, helping them predict
which groups are under threat, leading to the implementation of conservation strategies to help
protect/monitor species numbers in those areas/increase diversity.

Disease Inheritance: Analysis of SNP data in humans can be used in genetic testing to associate these genetic
markers with the risk of inheriting genetic diseases. In NSW, the newborn screening program provides free genetic
tests for all newborns for SNPs associated with several diseases e.g. cystic fibrosis. The data collected provides
potential for large-scale genomic analysis which have significantly influenced disease management through early
detection and improved treatment options (more quickly/accurately).
 Method description: deleterious mutations of BRCA1/BRCA2 genes put women at a much higher risk of
developing breast cancer. A longitudinal study involving thousands of women was carried out to sequence
genes to identify the prevalence of BRCA1 and BRCA2 mutations in this group. The purpose was to identify
whether there was a link between ethnicity and mutation prevalence.
 Analysis/Results: mutations to the BRCA1/BRCA2 gene were identified in 12.5% of subjects. Results suggest
a link between ethnicity/inheritance of these mutations. The risk of developing breast cancer and ovarian
cancer according to age was graphed.
 Implications: the analysis of large-scale genetic information has increased the accuracy of identifying
patients at risk of certain diseases. Health professionals can educate potential patients on preventative
measures such as tumour detection techniques, provide early counselling and support for the patient, and
other methods to reduce the risk of developing the disease of interest.
Human Evolution- Anthropology has utilised population genetics to help provide evidence to determine the
pathways of human evolution and explain the causes of human diversity e.g. mutation, natural selection, genetic
drift, gene flow. Models have found that the evolution of human genetic diversity has occurred over the past several
hundred thousand years or longer. Our species is geographically widespread, but shows low levels of differences
among population groups suggesting persistent levels of gene flow/dispersal.
 There are 2 theories about human migration out of Africa, both beginning around one million years ago
when Homo erectus began its migration using Mitochondrial DNA (molecular clock: mutates at a predictable
rate) as evidence. Members of a group that share the same mutations must be descendents of a common
ancestor (haplogroups). By comparing the differences between individuals/groups and the predicted
mutation rates it is possible to determine the length of time from which they diverged (split).
 Analysis & Results: African populations show greater MtDNA diversity than any other population providing
evidence to support the Replacement hypothesis (Out of Africa theory), suggesting that African populations
are older than other populations and more time has passed for mutations to occur. Molecular clock
estimates modern humans evolved over 200 000 years in Africa and people migrated out of Africa 70 000
years ago.
  Implications: Studying human genomes has changed our understanding/improved the theory of human
evolution. Understanding genetic diversity of the humans helps scientists to predict genetic patterns/our
ability to survive in changing conditions.

Module 6 Mutation: How does mutation introduce new alleles into a population?
 explain how a range of mutagens operate, including electromagnetic radiation sources, chemicals, naturally
occurring mutagens: DNA (purines (a/g)/ pyrimidines (c/t): chemical compound cells use to build DNA/RNA)
integrity is essential for cell function.

Mutations (introduce new variations/alleles into a population): change in the genetic material of cell where
nucleotide sequence in DNA is altered. Protein produced might be altered (can be harmful). Can be inheritable
(germline via meiosis) OR not (somatic mutation via mitosis). Causes of mutations: result of random natural error
that are not corrected during cell replication or are induced by mutagens (through mutagenesis). Neutral mutations
occur in non-coding regions. Many mutations are carcinogens make cells more likely to become cancerous.
Chemical are chemicals that cause mutations (alters the function of proteins/impairs cellular processes) if cells are
mutagens exposed to them at high frequencies/for prolonged periods of time. Mutagens can be structurally similar to
Ingested normal bases (Base analogues via substitution) so they may mistakenly incorporated during DNA replication,
chemicals a chemical insert itself into the DNA (Intercalating agents: affect DNA structure- synthesis can’t act as
(alcohol)/ normal), change how the bases pair (Alkylating agent: add alkyl groups) or makes a gap which
environmental remains/randomly filled. Results in the insertion of incorrect nucleotides (mispairing).
irritants
(solvents)
Natural mutagenic agents that are present at normal levels within natural environments (mutation chances
mutagens increases with frequency/length of exposure). Non-biological: (metal) OR Biological:
living/non-living viruses/bacteria/microbes (mycotoxins: poisonous chemicals from fungi insert their own bases into DNA
triggering cancer). Transposons: sections of DNA that spontaneously fragment & relocate/multiply within
the genome, disrupt DNA functioning. Bacteria cause inflammation (produce free radicals/reactive oxygen
species- DNA damage).
Physical Radiation: transfer of energy, ionising radiation: shorter wavelengths of radiation; when electrons pass
mutagens: through cells free radicals are released- highly reactive and breaks strands of DNA/chemical bonds leading
ionising to deletions, partial chromosome loss, rearrangements in DNA sequences interfering with cell division,
radiation/heat- protein formation and cell metabolism. E.g., Gamma rays: giving energy to atoms they hit, which
HIGH ENERGY vibrate/loose electrons breaking chemical bonds  mutations.
e.g., x-rays, EMR spectrum: from sun; energy transmitted in waves/particles over an expanse of
infrared, UV frequencies/wavelengths. IUV radiation is non-ionising. UV-B produces pyrimidine dimers (cross linked
radiation. nucleotides where two thymine/cytosine bases become attached to each other preventing them from pairing
with the bases on the complementary strand (preventing normal replication and transcription)).
DNA repair mechanisms: base excision repair- damaged/incorrectly paired base is removed/replaced AND
DNA polymerase checks.
Spontaneous Arise randomly because of an error in a natural process E.g., replication errors. Opposite to induced
mutagens.
 compare the causes, processes, and effects of different types of mutation:
Point mutation: Process: Single missense point mutation (substitution)- spontaneous during DNA replication in the gene
affects only a single that is responsible for beta-globin in red blood cells. This alters 1 amino acid (Mutant allele= haemoglobin
base pair/single S), changing protein/haemoglobin structure causing red blood cells to become hard, sticky and C-shaped
gene. (phenotype), which reduce the blood cells’ ability to flow/reduces oxygen transport. (Serious effects).
Inheritance Present in germline cells (recessive)
 Frameshift mutations: nucleotides are added or removed from a sequence, altering every codon
in that sequence from that point onwards. Potentially alter amino acids from the point of impact.
(Affects a single gene or a sequence of genes)
 Substitution: one nucleotide is replaced with another usually creating a different amino acid. E.g.,
Sickle cell anaemia: (GAG to GTG, valine to glutamic acid. Difficulty going through blood vessels 
blood cell rupture, anaemia, early death).
Chromosomal Process: Non-disjunction- meiosis (2 copies of homologous chromosome do not properly segregate and
mutation (down end up in the same gamete, leaving another missing the chromosome) causes polysomy- extra
syndrome): chromosomes copies.
movement of Effects: Results in excess proteins being made, phenotypic traits e.g., slower development/organ
sections of a problems.
chromosome to - Nonsense mutations: change amino acid to a stop codon (sequence after will not be translated),
another part of the resulting protein is usually non-functional. May not have enzymatic activity, bind with other
chromosome/a proteins, or cell may recognise it as abnormal.
different - Missense mutations: point mutations that result in an amino acid change. e.g., sickle cell
chromosome - Silent mutations: no change in amino acid/phenotype (redundancy of the genetic code).
(chromosome - Neutral mutations: produces same type of amino acid (group: changes amino acid but not protein
structure/number function).
is changed- Inheritance: is passed down if present in germline cells and inherited.
multiple genes  Duplication: region of a chromosome is repeated/copied, causing increase dosage from genes in
affected). In that area/increased gene expression.
crossing over  Inversion: segment of chromosome undergoes a breakage, rearranging itself/replaced in reverse
(meiosis), parts of order.
one chromatid can  Translocation: segments of 2 chromosomes are exchanged (may interrupt gene sequences) OR
break off and piece of 1 chromosome breaks off and attaches to a non-homologous chromosome. Balanced if no
become attached genetic material is gained or lost in the cell.
to the other- Chromosome mutation: Tasmanian Devil Facial Tumour Disease is an aggressive/contagious cancer. DFTD
rearranging of is a somatic mutation and spreads when living cancer cells are transferred from one devil to another via
some genes. biting entering tears in flesh and growing as a tumour. DFTD chromosomes have multiple chromosome
Caused by translocations, part of the chromosome in 1 has shifted in 2.
Spontaneous  Aneuploidy: 1+ extra or missing chromosomes leading to an unbalanced chromosomes e.g.,
mutation. trisomy 21.
TRISOMY 21 (down syndrome): caused by having an extra chromosome (21), which can cause the body
and brain to develop differently. Chances increases with mother’s age. Signs: Distinctive facial features,
intellectual disabilities, Skeletal abnormalities.
 Polyploidy: possessing more than two complete sets of chromosomes.
Insertion: addition of genetic material changing DNA sequence by adding 1+ nucleotides  protein may not function
properly.
 Point: one nucleotide is added into the sequence pushing the rest of the nucleotides back.
 Chromosomal: a piece of a chromosome is removed and added to another chromosome (interrupts gene
sequence).

Deletion: loss of genetic material by removing at least one nucleotide in a gene. Deleted DNA may alter the function
of affected protein. E.g., Cri du chat syndrome caused by missing pieces on a chromosome. Newborns have a high-
pitched cry, and a small head.
 Point: 1 nucleotide removed in the sequence and moves the rest of the nucleotides forward.
 Chromosomal: a portion of a chromosome is lost (reduction of genes).
 distinguish between somatic mutations and germ-line mutations and their effect on an organism.

SOMATIC MUTATIONS GERMLINE MUTATIONS

genetic mutations in the somatic (body cells) are not in the reproductive tissue (germ cells) that give rise to gametes during
passed onto the next generation. Often spontaneous meiosis and can be passed down. Rarer than somatic mutations due to
mutations may occur during the S phase of the cell the elevated levels of DNA repair enzymes. If the gamete survives to
cycle (should be repaired during G2 phase of form a zygote the offspring will be heterozygote for that mutation in all
interphase), dividing by mitosis causes error to be cells. The parent organism phenotype will not be affected, only the next
replicated. Mutations might allow the cell not to be generation (source of new alleles/variation).
able to function properly (cell dies) or cause cancer. EXAMPLE (negative): sickle cell disease; inherit two faulty haemoglobin
E.g., skin cancer caused by mutations (UV rays) genes ‘haemoglobin S.’ Mutation arose to help defend against malaria
damaging the DNA leading to cells uncontrollable (heterozygous- neutral)
growth = melanoma. EXAMPLE (positive): mutations that disable ANGPTL3 gene have low
EFFECT: negatively/positively affects ONLY the levels of cholesterol/have no plaque in coronary arteries (prevent heart
individual but won’t be passed down. Don’t affect attacks). Beneficial, withstand stresses in environments increasing
the gene pool. If a somatic mutation occurs in a cell survival chances.
during the first few cell divisions, it can lead to a EFFECTS: genetic variability and speed of evolution. Sources of new
mosaic heterozygote (organism with some mutated alleles which can be advantageous for natural selection allowing for
cells and some normal cells). Only tissues derived survival benefits. Redundancy in the DNA sequence means mutations
from mutated cells are affected. do not cause any new traits. Could make the protein a different
shape/non-functional or cause medical conditions/hereditary diseases.
Assess the significance of ‘coding’/‘non-coding’ DNA segments in mutation: phenotype depends on the presence of
particular proteins and their activity. (Gene: section of DNA containing instructions for making a protein). In
eukaryotes: 2% of DNA is coding and 98% is noncoding. JUNK DNA: have neither a protein-coding nor a regulatory
function.
CODING: is Advantages: Introduction of new alleles in the population creating new phenotypes (variation) which
transcribed and may be beneficial.
translated; codes for Disadvantages: Impact on polypeptide synthesis, and production of proteins causing disease/disorders.
a specific sequence Mutations have a direct effect on proteins, affecting phenotype. Proteins could become dysfunctional.
of amino acids and Sequence of amino acids are affected.
polypeptides; direct Significance: exons (code for a specific protein, are transcribed and translated). Vital role in the
effect on reproduction of protein that control the function of biological processes/systems thus, a single change
proteins/phenotype. will cause a disfunction in protein function/chromosomal aberrations. Sometimes mutations are
harmless and play a role in increasing adaptability to changing environmental conditions.
Mutations in DNA repair enzymes can cause cells to malfunction, become cancerous or die. Mutations in
 tumour suppressing genes can result in cancer. Causes genetic diseases e.g., Huntington’s disease. In
eukaryotes affects DNA splicing thus modify the function/levels of the protein product. In prokaryotes
most DNA is coding.
NON-CODING: Advantages: No impact on polypeptide synthesis and may have no effect. Important in gene expression
doesn’t code for (switching genes on/off). Includes Structural DNA (maintains structure of chromosomes), functional
proteins; have RNA- transcribed from DNA but not translated into proteins (rRNA- binds to ribosomal proteins; crucial
regulatory to cell functioning), and introns. May hold an evolutionary advantage acting as a buffer area so if
functions). frameshift mutations occur, introns will minimise the mutation’s impact.
Important in Disadvantages: occurs in a binding region of an intron, correcting splicing will not occur, and
embryonic polypeptide synthesis may be impacted (introns read as coding sequences causes missense/nonsense
development. mutations; gene expression reduced, incorrect protein product made). Occurs in promoter/terminator
region can lead to over/under expression of genes/proteins. Mutations in areas preventing production
of microRNA rRNA and tRNA halts polypeptide synthesis. Mutations linked to cognitive
abnormalities/developmental disorders, cancers, predisposition to disease.
Significance: play role in regulating gene activity/control the action of regulatory proteins (act on genes
and regulate their functions), thus can result in a protein being expressed in the wrong place/time
disrupting function of regulatory elements e.g., promotors. Mutations can be inherited, Effect will
depend on where it occurs/how it affects the folding of the RNA e.g., Mitochondrial disease. The
mutation within the intron resembles a splice site resulting in splicing occurring at the wrong point.
 investigate the causes of genetic variation (helps individuals adapt to the changing environment  increased
alleles  increased survival) relating to the processes of fertilisation, meiosis, and mutation (ACSBL078)

FERTILISATION: Random fusing of gametes (mixing gametes produced by meiosis) where the alleles for each gene
are independently assorted and segregated in meiosis, increases genetic variation in individuals (new gene/allele
combinations), genetic diversity, permutations, and variability in a population as every sperm/egg are different.
Zygotes receives half of the genotype from each parent. Mixing of genes (dominant, recessive etc.) can result in
production of traits that neither of the parents possess. Variability improves ability of population to adapt to changes
in the environment/improved survival of species. Can be increased if there are greater number of alleles present.

MEIOSIS (4 haploid gametes): gametes formation results in genetic recombination of paternal/maternal genes.
When two different gametes unite during sexual reproduction a further mix of genetic material occurs. Replication
errors lead to point mutations.
 Chromosomal errors: crossing over goes wrong (or non-disjunction occurs in anaphase: when 1+ pairs of
homologous chromosomes don’t separate as they should  abnormal distribution of daughter
chromosomes with different chromosome number), aberrations may be introduced e.g., DNA may be
inverted before it is inserted onto the arm of the corresponding chromatid.
 Unequal crossing over during Prophase 1 (meiosis): if two homologous chromosomes undergoing crossing
over are not lined up exactly side by side, the 2 chromosomes may be different/abnormal lengths. 1
chromosome will have more genes, the other fewer.
 Random segregation: when gametes are formed alleles segregate randomly into gametes.
 Independent assortment: alleles of two (or more) different genes get sorted into gametes independently of
each other.

MUTATION (permanent changes to DNA sequence -somatic/germline): create new heritable phenotypes subject to
selection and evolution. Increases number of alleles for a trait/genetic variability when in the germline. Mutation
often happens in DNA replication (spontaneous mutation during interphase 1 that are not repaired/corrected),
unequal crossing over, transposon (sequences of DNA that capable of moving around the genome- may insert
themselves in the middle of a gene causing a frameshift mutation), chemical degradation of DNA, or
separation/disjunction of chromosomes. Mutagens cause aberrations in genes/chromosomes which can be
numerical and structural. Adding or removing of genes creates defective protein or might create a less functioning
protein. Silencing genes can eliminate a particular trait.

evaluate the effect of mutation, gene flow and genetic drift on the gene pool of populations.
Hardy- a mathematical model of gene frequencies in a population. Assumptions: there are two alleles of one gene
Weinberg determining one trait. The allele frequency always adds up to 1. p = dominant allele, q = recessive allele (t).
equation 2 2
p +2 pq +q . Allele and genotype frequencies in a population will remain constant from one generation to the
 next if mutation, geneflow, genetic drift and natural selection remain constant.
Natural mechanism of evolution, organisms that are more adapted to their environment selection pressure are more
selection likely to survive (with advantageous characteristics) and pass on their genes. Occurs when there is variation in
traits: (some individuals have a selective advantage.
Population measuring how a population evolves over time by looking at distribution of genetic variation/allele frequencies.
genetics Mendel found: each parent donates one allele for every gene of their offspring. Darwin’s findings: natural
selection is driving force for evolution.
Genetic Variation in alleles/DNA sequences, both within/among populations [group of organisms of one species that
variation interbreed and live in a place at the same time]. Greater genetic variation means it is more likely that there’ll be
individuals that possess a survival advantage, help species cope with a change in the environment. Lack of genetic
variation can limit survival ability/adaptiveness. E.g., panther population declined significantly due to habitat
loss/hunting. By the 1990s there were less than 30 panthers left in the wild (less genetic diversity/fewer alleles). To
save the panthers, eight females were brought in, gene flow increased genetic diversity.
Mutation: prime source of genetic variation by changing the sequence of nucleotides in DNA creating new alleles/traits to
facilitates increase the gene pool and allow for adaption, or removing them- resulting in decreased gene pool
evolution (detrimental/deleterious mutations). Can be inheritable. The probability of passing of a mutant gene depends on
whether it is dominant, co-dominant, or recessive. Mutation helps organisms to survive (very rare) e.g., antibiotic
resistant strains of bacteria. Neutral mutations = evolutionary ‘back up’  possible future advantage.
Gene pool all the genes in a population.
Gene flow: passing on genetic material from one population to another (recombines DNA between populations). When new
noticeable individuals move into a population (immigration/alleles moving in), or individuals move out (emigration/alleles
in smaller out), altering the gene pool). Animals usually have greater migrative capability than plants, but pollen and seeds
population may be carried great distances by animals/wind. Flow is mostly horizontal (between individuals of a
same/different species rather than parent to child). New alleles spread or old ones are lost.
Genetic result of many variants that may be present for each gene (has 2 or more alleles: one of two or more versions of a
diversity DNA sequence). Thus, there are a large number of variants- a polygenic trait has many possible
genotypes/phenotypes.
Genetic random change in allele frequency BY CHANCE (no alleles are more favourable, individuals are different, not more
drift successful). Result of the bottleneck effect: a natural disaster (tornado)/significant random environmental
selection (hunting) OR the founder effect: few individuals in a population becoming geographically isolated from
the original population reducing variation. Individuals may not be an accurate representation of the allele
distribution and genotype frequencies of the original population. Effect is greater in smaller populations.
Selective Pressure: natural selection (Darwin). Variations that are passed on because they make the individuals more likely
to survive.
Sexual Selection: Certain individual are more attractive to mates/more likely to breed (these individuals’ genes are more
common in the gene pool.
Genetic all individuals have the same reproductive capacity/fitness (goes to fixation: a ‘fixed’ allele it is the only remaining
stability allele in that population having outcompeted all others). Any change that causes some individuals to produce
more offspring, changing allele frequencies.
HUNTINGTON’S DISEASE: in-curable disorder which affects the nervous system of humans caused by a dominant HD
allele. Most prevalent amongst people of European descent. Mutations/gene flow (Europeans transferring HD to
other populations that they breed with) have major impacts and are believed to be significant contributors to the
increased prevalence of HD in the world. Minimal impact from genetic drift.
Advantages (supporting increased prevalence of Disadvantages (no significant increase in prevalence of HD)
HD)
HD is caused by a trinucleotide repeat (CAG) Genetic drift: As HD affects a large population and different versions of
mutation on the Huntington gene. Alleles with less the HD allele are quite frequent around the world, there is minimal
than 35 CAG codons are non-HD alleles and those effect of genetic drift.
with greater than 40 are HD alleles. Mutations from AS HD is a late onset disorder, presymptomatic people with HD have
a non-HD allele to a HD allele is not rare (about an increased fertility which can account for the increase prevalence of
10%). HD allele. Other codons around the CAG repeat codon play a role in a
person’s predisposition to HD
Gene flow: European migration appears to have Gene flow: While increase in HD prevalence has been attributed to the
carried the HD allele wherever they settled and European version of HD there has also been gene flow from Japanese
introduced the HD allele into other populations by and African communities to other populations (not as prevalent
breeding (Australia, New Zealand, America). around the world).
Prevalence of HD in these areas have increased.
Biotechnology: How do genetic techniques affect Earth’s biodiversity?
 investigate the uses and applications of biotechnology, including: analysing the social implications and
ethical uses of biotechnology, including plant and animal examples, researching future directions of the use
of biotechnology, evaluating the potential benefits for society of research using genetic technologies,
evaluating the changes to the Earth’s biodiversity due to genetic techniques

Morals concern personal ideas of right/wrong. Ethics: moral principles that govern behaviour (set of rules used in a
societal group).

Biotechnology: manipulation of living organisms (or biological system) to develop a useful product/process/tool for
human benefit. Organisms evolved with vast biological capabilities thus can obtain a wide variety of useful
substances. Has already begun to change traditional industries.
 Reproductive technology: use of technology to assist/improve reproduction e.g., artificial insemination.
 Gene Technology: manipulation of DNA to create products for humans e.g., transgenic organisms, gene
cloning, GMOs.

PAST: improve living conditions and survival, targeting needs for food, shelter and clothing for thousands of years.
 Fermentation: (over 10,000 years). Yeast/microorganisms/enzymes used to produce wine, beer, vinegar
and bread (started in Egyptian times; fermenting bread in damp areas in the presence of yeast). Yogurt (4000
BC) was produced by lactic acid bacteria in milk. Still used to produce enzymes used in environmental
remediation/industrial processes.
 Selective Plant Breeding: (thousands of years ago). Crop improvement (selecting seeds from the most
successful plants and producing a new crop with the most desirable traits and cross breeding to produce
stronger, healthier offspring with hybrid vigour).
 Medicine: use of plants to heal the sick e.g., willow bark containing salicin to treat inflammation.
(Indigenous)

MODERN: ability to manipulate DNA to create products for human use- cutting, copying and pasting DNA sequences.
1. MEDICINE: Gene modification/transgenesis are used to produce therapeutic human proteins in cells or
whole organisms e.g., human insulin, used to treat diabetes, is made in genetically engineered bacteria, AND
large, more complex proteins (hormones/antibodies) are made in mammalian cells. Antibiotics and vaccines
are products of microorganism. Gene therapy technologies are being developed to treat diseases like cancer,
Parkinson’s disease, cystic fibrosis.
2. AGRICULTURE: Plants and animals can be improved by selectively breeding for particular traits or by genetic
modification. E.g., plants with herbicide/insect resistance, tolerance to different growing environments.
Stable supply of nutritious foods.
3. Technology to manipulate DNA:
a. DNA splicing: cutting out genes using a restriction enzyme.
b. DNA amplification: copying genes, using polymerase chain reaction- DNA polymerase to replicate
fragments.
c. Recombining DNA: ligase joins pieces of DNA together forming bonds in the sugar phosphate
backbone.

Potential benefits for society of research using genetic technology:

Industrial Pollution prevention: microorganisms to clean up/reduce waste, producing environmentally friendly products.
Biomaterial production: any natural/synthetic substance made to interact with biological systems (stents/
implants).
Bio fabrication: automated production of tissues/organs using materials e.g., cells, fibres, gels.
Medical Gene therapy delivers normal genes that function correctly to individuals who are lacking a functional copy.
Improve the health, use of genetic technologies in immunotherapy, developing different antibodies used for
immunosuppression. In vitro fertilisation: allows infertile couples to reproduce/prevents children from being
born with genetic diseases. Extended life: create resistance to common death causes.
Agricultural Nutritional enhancements, growth of crops in substandard conditions, increased productivity/help in the supply
food.
Reproductive technology/genetic diversity: e.g., artificial insemination. Increased milk yield, quality of beef, size
 of eggs etc. Use of genetically engineered crops e.g., Golden Rice to address hunger in poor developing countries
working to eradicate starvation. Created by inserting genes from a daffodil and bacterium into a rice genome.
Golden rice has vitamin A/beta carotene  more nutritional.
Conversation biology applications: advances have enabled researchers to identify desirable traits, maximise
hybrid vigour and genetic biodiversity via artificial insemination e.g., a zoo used artificial insemination of animals
at risk of extinction, creating 100 black footed ferrets to release into the wild. Captive breeding technologies are
essential in saving species (Sumatran rhino).
Faster growth rate: maturity can occur at a quicker pace in different environments.
Specific traits can be developed: can make plants/animals more attractive to use/consume, by producing a wider
range of produce. Animals can be modified to produce more milk, grow more muscle tissue, or produce different
coats.
Greater yields produced: of plants/animals creating a greater food supply/more profits because of
insect/pathogen resistance.
Reduced use of pesticides/herbicides: protects local watershed e.g., eutrophication.
FUTURE: look for new, faster, and more efficient ways of detecting gene sequences in genetic testing/screening
aiming to developing new gene therapies/treatments. Advances in genomics will be used to improve treatment of
infectious diseases, cancer and genetic disorders.
1. PERSONALISED MEDICINE: Customization of healthcare tailored to the individual patient where a patient’s
genetic content, is used to select medical treatments (tailored to body processes/maximising value of
medicine). Pharmaceutical companies can create drugs based on the proteins, enzymes and RNA molecules
that are associated with specific genes and disease to maximize therapeutic effects but also to decrease
damage to nearby healthy cells.
2. CRIPSR: genome editing technique, Cas-9 (enzyme) can be used to snip DNA at a particular bases to attach to
a guide RNA that targets a specific nucleotide sequence in the genome. Possibilities: uncovering genes that
cause neurological disorders.
3. MICROBIOME MANIPULATION: using tailored probiotics, genome engineering, synthetic biology etc. will
result in improved tolerance of food/resistance to disease. May extend learning capacity, alertness, ability to
perform in a stressful environment.
4. GENE THERAPY: used for treating, or even curing, genetic and acquired diseases like cancer and AIDS by
using normal genes to supplement or replace defective genes or to bolster a normal function e.g., immunity.

Changes in biodiversity (critical for maintaining healthy ecosystems/life) due to genetic techniques: great potential
to affect biodiversity (genetic, species and ecosystem diversity). Alters evolution, increases genetic diversity in the
short term (new gene combinations) (see transgenic species), long-term decreasing if the desirable artificially
engineered organisms reproduce and bred (engineered organisms gene frequency will increase and out-compete
original species- could risk extinction and unbalanced ecosystem). Ecosystem diversity is affected and reduced by
continual land clearing for agriculture e.g., transgenic crops that can now be grown in substandard areas. Wild
varieties might also cross breed with engineered ones. Biotech can save animals from extinction, improve
biodiversity in farming practices and alleviate hunger.

Social implications and ethical uses of biotechnology: Bioethics looks at the conflict (between right/wrong) and
choice between values, ethics etc. accounting the benefit/harm to lives and health of individuals/society against not
using the technology. The United Nations estimated there will be over 2 billion more people to feed and the demand
for food and other resources will grow exponentially. Reproductive and genetic technologies in livestock/crop
population can possibly alleviate poverty/hunger, reducing disease and boosting sustainability by increasing
amount/quality of food, and crop disease resistance. Medical/health benefits, financial/social justice issues,
animal/human rights (choice), privacy/societal perception (respect), equity/justice (fairness) and effects on the
environment should be considered.
 Harm to the environment and other organisms: by GMO’s is unknown. E.g., Bt corn encodes a natural
pesticide (not eaten by insects thus more crops and it doesn’t need to be sprayed with chemical pesticides).
However, the transgenic corn cross-pollinates with nearby milkweed plants which become toxic to monarch
butterfly caterpillars who eat them, disrupting the food web.
 Bioterrorism: Governments are worried terrorists will use biotechnology to create new Superbugs (global
impact).
  Lab/production safety: Some technologies make commercial production lines before they have been
sufficiently tested for safety. Concern about technician safety in laboratories when working with unknown
organisms.
 Protecting human subjects in trials: at times human trials don’t work the way they are planned which may
cause lethal harm to the subjects e.g., during WW2 drug trials breached ethics by subjecting vulnerable or
terminally ill volunteers to harm.
 Affordability: most products and treatments cannot be afforded by the mass public.
 Potential breach in ethics creating ‘superhumans’, raises questions about human/animal rights and how
tampering affects evolution.

Genetic Technologies: Does artificial manipulation of DNA have the potential to change populations forever?
 investigate the uses and advantages of current genetic technologies that induce genetic change
 describe applications used in recombinant DNA technology e.g., development of transgenic organisms in
agricultural/medicine.

Genetic change can be induced by integrating specific new genetic material into the cells of target plant/animal
species by using vectors, by Microinjection (DNA can be directly injected in cells), in vitro (outside natural
environment) fertilization, and DNA recombination. Advantages: quicker maturity, increased adaptability to
unfavourable conditions. Creates resistance thus increases lifespan. Can be made more attractive to use or consume.
High yields reduce global food insecurity. Improved quality/disease resistant plants reduce usage of
herbicide/pesticide.

RECOMBINANT DNA: for a gene to be cloned it must be inserted into a vector (plasmid); can mix DNA from 2
different species (piece of foreign DNA can be inserted into a host genome at a random/exact location). Scientists
artificially introduce plasmids containing a desired gene into bacteria (transformation) and is used to produce many
copies of a gene or to express a cloned gene e.g., insulin used to treat diabetes or creating a transgenic organism.
Can be time consuming/expensive/some applications are being replaced by CRISPR-Cas9.
1. Preparing the gene to insert into plasmid: Required gene is isolated. Circular plasmid DNA is cut by the
restriction enzyme; cutting out a gene from a genome OR makes a copy of a gene from mRNA. Sticky ends:
One strand is longer than the other- bases unpaired.
2. Gene is cut from source by same restriction enzyme so has the matching sticky ends.
3. The human gene joins to the plasmid via base pairing (annealing. DNA) ligase joins DNA fragment (catalases
the formation of the bonds). The recombinant plasmid taken up by a bacterial cell and will have antibiotic
resistance gene.
4. The bacteria are cultured on agar containing antibiotics, the resulting bacteria have the ‘foreign gene’.

Delivering the gene: microinjection of DNA directly into the nucleus of a single cell, mechanically delivering DNA on
microscopic particles into target tissues and cells by firing them with a gene gun, electroporation: increasing
membrane permeability, transduction via a vector.

Medical uses: can expand our understanding of the role genes play in the development of disease and provide us
with opportunities to safety test and develop new treatments. Type 1 Diabetes: non-infectious autoimmune disease
in a person who cannot produce insulin to regulate their blood glucose levels requiring the injection of insulin. The
human insulin gene was cloned into a plasmid. The microorganisms transcribe/translate large amounts of the insulin
polypeptide in fermentation tanks.
1. Get an e-coli with plasmids and isolate them.
2. Add a restriction enzyme (cut the plasmid at a specific point) and digest plasmid DNA to create sticky ends.
3. The insulin is taken out of chromosome 11 and the bacterium DNA is added using complementary base
pairing, then ligated. Creates a purified recombinant plasmid containing human insulin.
4. Heat stock is used to trigger bacteria to take up the plasmid through transformation. A few bacteria take up
the plasmid.
5. Bacteria are placed on an antibiotic plate. Only bacteria that have taken up the plasmid survive; each
reproduces to make a colony.
6. A colony is grown in a culture medium to make identical bacteria. Cells are lysed and insulin is purified,
hormone treats diabetes.
Round Up Ready corn: an enzyme that can break down the chemical (glyphosate- herbicide) making plant resistant.
Advantages: increased crop abundancy, more water/nutrient availability: converses natural resources, less poison,
efficiency of agriculture by removing weeds.
1. Plasmid is removed from the bacterium (with the gene that can break down the glyphosate). DNA is cut by
restriction enzyme.
2. Foreign DNA is cut by the same enzyme.
3. The foreign DNA is inserted into the T-DNA of the plasmid creating a recombinant Ti plasmid. Plasmid is
inserted into a bacterium.
4. The bacterium is used to insert the T-DNA carrying the foreign gene into the chromosome of a plant cell.
5. The plant cells are grown in culture.
6. A plant is generated from a cell clone. All of its cells carry the foreign gene and may experience it as a new
trait (transgenic species).

CRISPR-Cas9 e.g., BCL11A knock out: natural defence mechanism used by bacteria to attack viruses that infect them.
The genome of a bacterium contains a CRISPR locus. When a bacterium is infected by a virus, the Cas-9 enzyme
locates the viral DNA in the cell, cuts it up into pieces and inserts it between the repeats in the CRISPR locus
(memory of viral attack). If the bacterium is infected by the virus again, it transcribes the viral DNA to make CRISPR
RNA (crRNA), combining with Cas9 and guides it to the virus and cuts it up. CRISPR-Cas9 can precisely ‘edit’ specific
locations to knock-out (inactivate a gene), knock-in (correct a mutation) or transgenic organism (insert gene).

Advantages: quick, easy, inexpensive to design for a gene of interest. Been

used to alter crops/been trialled in humans to cure genetic disease e.g.,
sickle cell disease.
1. DNA acts like an instruction manual in precise sequences and
scientists can engineer things.
2. CAS which cuts out the segment and puts in into the CRISPR which is transcribed into RNA. Can be used to
recognise sequences in the future.
3. Designs a guide RNA and attaches to cas-9, which directs cas-9 to the targeted gene which snips the gene,
the cell will try and repair (nonhomologous end joining), however if you add a template it uses homology
directed repair.

GENETICALLY MODIFED CROPS: the genes of other organisms can be inserted into another organism. Advantages:
higher yields and extra nutritional value. Using pesticides are bad because they are time consuming, expensive, and
harmful, damages soil and water. Weeds compete with the plants for their water, light and nutrients, plants can be
modified to be resistant to pesticides, diseases and environmental conditions. Farm in worse conditions.
Disadvantages: unknown long-term impacts, concern they would spread to other plants- damage the ecosystem.

TRANSGENIC SPECIES: is one that has been created by moving a gene across species. Must be part of organism’s
germline to be inherited. E.g., Transgenic Bt cotton: Helicoverpa zea moth caterpillars, started developing genetic
resistant to herbicides. Bt cotton plants include a gene taken from a soil bacterium that codes for production of a
protein that kills the caterpillar and has reduced pesticide use, thus better for the environment/reduces the need for
pesticides production. Now only spray occasionally to kill some insects (not the beneficial ones). Short term: creates
increased genetic diversity allowing species to survive better. Long-term genetic: diversity may be decreased
because original genetic material may be reduced or lost. Concerns that Bt cotton use will lead to Bt resistant insects
 cannot use their ‘natural’ insecticides.

1. Cut normal cotton seedling into small pieces and place them in growth medium. After 6 weeks the cells are
transferred to a liquid medium where they are given hormones to induce them to grow into cotton plant
embryos.
2. Bt gene is cut from the bacteria using restriction enzymes. Cotton plant embryos are dipped into a solution
that contains a mixture of the vector that contains the extracted Bt genes. The vector bacteria inject the Bt
genes into the cotton cells.
3. Once the gene is inserted, the embryos containing the Bt genes are grown into tissue culture and then
germinate into small plants.
Plants in agriculture: transgenic plants are produced to be resistant to pests/herbicides, grow faster or be better
adapted. Method 1: gene is cloned into a tumour inducing plasmid, that naturally exists in a plant pathogen, plant
cells are infected with this. Method 2: metal particles coated with the gene are fired at plant tissue. Both incorporate
the gene into a chromosome at a random location. (Golden rice/Bt cotton)

PROS: Increased yields/crop production in locations where plant growth is difficult, improving availability of food
supplies. Provides effective, cost-efficient treatments for some diseases. Reduced use of pesticides, and livestock can
be made pest-resistant reducing soil and water pollution. Crops can be more efficiently grown and created to have
higher nutritional value making them more economically viable and better for human health. CONS: Risk of
transgenic plants cross-pollinating with wild varieties and creating unknown hybrid species potentially effecting the
ecosystem balance. Interfering with nature ‘playing God’ causing ethical concerns (naturalistic fallacy). Decrease
genetic diversity when transgenic species outcompete normal and increasing risk of survival in changing conditions.

Transgenic animals in medicine: mainly to act as convenient producers of recombinant proteins (biopharming).
Transgenic animals are created by injecting a vector (plasmid/virus) that contains the transgene into a fertilised egg.
The cloned gene inserts into one of the host organisms’ chromosomes at a random location. The egg is allowed to
develop until the blastocyst stage and implanted into the uterus of a surrogate mother, some offspring express the
transgene when they are born. E.g., Transgenic sheep (Tracy) produced human protease inhibitor a1-antitrypsin in
her milk (treat people with emphysema and can potentially alleviate some of the symptoms of cystic fibrosis).
 Animals in agriculture: difficult to make transgenic mammalian livestock with a desirable trait. Successful
application: AquAdvantage salmon (growth hormone gene from the Chinook salmon with a gene promoter
from ocean pout: increased growth rate).
 compare the processes and outcomes of reproductive technologies, including but not limited to:

Selective breeding: mating a male with a female with desirable characteristics trying to achieve offspring with that
characteristic e.g., crossing Friesian bull (lots of milk) with a Jersey cow (creamy milk). Offspring with both desired
traits are then selected/breed again (have hybrid vigour). Disadvantages: undesirable genes are inherited together.
Time consuming and costly from transporting animals over long distances.

Artificial insemination: collecting sperm cells from a male animal and depositing them into the productive tract of
females. Best bull  false mounting to arouse bull, collector collects sperm in artificial vagina by diverting the penis
to the vagina sperm is collected liquid nitrogen tank, frozen and transported thaw thermos bottle  inserted
into a cow via a ‘gun’ into the cervix. e.g., production of hybrid dogs.

FOR: advantageous traits with new combinations of alleles, increased production efficiency, better/ desirable
genetics, increased chance of fertilisation, genetic improvement, transporting sperm is easier than transporting the
animal, cost effective, reduces injury/infections during mating, access to genetics from across the world or that they
would not otherwise be able to afford to purchase, to reduce the number of bulls required, to join a bull with more
females than he would be able to serve, sperm can be used after a bull has died. Help people who can’t have
children, increases the population size of endangered species.

AGAINST: doesn’t always result in offspring that have desired characters and may combine weaker features, can lead
to abnormalities (e.g. massive udders in milk cows), may lead to reduction of genetic diversity if the genes of the
same parents are over-represented in the gene pool, can be costly due to the requirement of specialised equipment,
time consuming, could potentially injure the female.

Artificial pollination: intentional human transfer of pollen from the male (anther) to the female (stigma) reproductive
organ of a plant. Used to select for desirable traits in horticulture e.g., particular flow colour and agriculture e.g.,
sweetness of fruit to increase crop yields when natural pollinators are rare and to save endangered plant species.
 The stamen: Anther: organ where the pollen (powdery substance containing a male gamete) grains are
formed held on the filament.
 The pistil/Carpel: Stigma: (top) sticky surface where the pollen adheres to, to germinate. Ovary (base):
forms and contains the ovules (eggs)  seeds after fertilisation. Style: narrow stalk connecting the stigma
and ovary (supports stigma).
  A 2012 scientific study found: Compared to manual and self-pollination, bee pollination increased fruit size,
seed set and germination rates and the increase in pollinator density promoted the production of bigger and
sweeter fruits.

POLLINATION: transfer of pollen (male gamete- produced in stamen): Pollen grains are held up at the anther where
it is removed by humans. It is transferred by brushing onto the pistil of the recipient plant (same (self-pollination), or
different (cross-pollination)).  FERTILISATION/ DEVELOPMENT: union of 2 haploid gametes to produce a diploid
zygote: Pollen falls on the stigma, and a pollen tube grows (germinates) through the stile to the ovary. The pollen
migrates through pollen tubes, to the ovules (contains eggs) sperm fertilises eggs. Then the embryo develops (seed)
and the surrounding ovary grows to become a fruit.  GERMINATION: When the fruit is removed, the seeds within
separate from adult plant. germination begins.

FOR: genetic improvement, Selective crossing of plants with desirable characters may produce offspring with
increased number of desirable traits e.g., disease resistance, greater crop yields. Can increase genetic variety (new
alleles) by hybridising plant varieties that wouldn’t come together in nature between different species offspring is
not fertile. Can use drones to pollinate.

AGAINST: may combine the weaker features. In the long term may lead to reduction of genetic diversity if certain
genes are over-represented in the gene pool due to repetitive crossing. Compared to insect pollinated usually have
smaller fruit and decreased seed germination rates.

In-vitro fertilisation: eggs are removed from a woman’s ovary and combined with sperm outside the body (petri dish)
to form embryos. Prescribed estrogen or birth control pills to max egg numbers  Ovarian stimulation (hormone
medication increases the number of mature eggs, follicle stimulating hormone and the luteinising hormone to
stimulate the maturation of the eggs)  pick the eggs (suction device is inserted through the vagina and pull the
eggs out and are placed in an incubator) sperm preparation  egg fertilisation (cells begin to divide- Zygotes
undergo early development in a lab and are frozen/left to grow into an embryo)  embryo development  embryo
transfer (via a catheter- after 1 week)  pregnancy. Used to save endangered animals from extinction. FOR: Used
for people who can’t conceive children. Sperm banks can result in an increase in desirable characteristics. Screening
of embryos before implantation can ensure only those without particular diseases are used. AGAINST: genes for
infertility which would not usually be passed on can be inherited. Genetic diversity is decreased there is many viable
embryos from a small selection of parent animals, sperm banks allow individuals to choose their donated based on
his traits maybe resulting in an increased frequency of certain donor genes within the population, other important
alleles could be lost.

 investigate and assess the effectiveness of cloning, including but not limited to: whole organism cloning and
gene cloning
Cloning: making a genetically identical copy of a gene, cell tissue or whole organism. Reduces the unknown element
of selective breeding. Reduces genetic diversity in populations as organisms reproduced are derived from only one
parent thus are genetically identical (increases the frequency of these genotypes in the population). Cloned animal
could become the predominant organism.

WHOLE ORGANISM CLONING: uses nuclear transfer technology to produce whole genetically identical organisms
(asexual).

Somatic cell nuclear transfer: offspring are genetically identical to the parent from which the somatic cell nucleus
was taken.
1. Somatic cells (diploid) are collected from the animal that will be cloned (tissue cell donor) and grown in a
nutrient rich culture.
2. An unfertilised egg is collected from female donor and the nucleus containing the DNA is removed
(enucleated)
3. The nucleus from a somatic cell is injected into the enucleated ovum.
4. The denucleated ovum is stimulated with electricity and divides into an embryo. Embryo develops into a
blastocyst which is implanted into the uterus of a surrogate mother. Cloned offspring is born with the same
DNA as the tissue cell donor.
 Embryo splitting: creates an embryo using IVF. Mimics the rise of identical twins with same genetic material (50% of
DNA from each parent).
1. Fertilisation: Sperm and egg make a six-cell embryo.
2. The embryos are split into 2 at the 6-cell stage and create blastocysts.
3. When the two embryos have developed to the blastocyst stage, they are implanted into the uterus of the
surrogate mother.
4. Two offspring are genetically identical. Share half their DNA with each parent.
Whole-animal cloning is very inefficient/expensive (clones often have developmental abnormalities/develop
mutations or die soon after birth) e.g., Dolly the sheep was the first animal (after 276 tries) to be cloned from an
adult somatic cell from the udder of a 6-year-old sheep in 1996. The problem with using an adult cell is that genes
for development have been switched off. Success rate is 1%.

Plants: can be cloned by taking a cutting from parent stock/producing explants in tissue culture (used to converse
rare species e.g., Wollemi pine). Very efficient and is used to produce plants quickly and cheaply on a large scale.
E.g., grape vines.
 Plant cloning using a cutting: A cutting is taken from a mature plant  A lower leaves are removed 
cutting grows into a clone.
 Plant cloning using explants: A tissue sample is scraped from the parent plant  The sample is placed on
agar with nutrients and growth hormones  The tissue sample develop into plantlets  Each plantlet grow
into a clone of the original plant.

Ethical issues: concerns for animal welfare, moral, religious, legal concerns about cloning humans, unforeseen health
risks, usually expensive.
PLANTS ANIMALS
PROS: Plants have identical requirements to the parent PROS: Cloning of individuals with desired characteristics ensures that
plant and under the same environmental conditions will desired traits are passed on. Potential to lead to replacement of
grow in similar ways to produce similar yields; makes dead/damaged tissues treating organ failure and diseases or bring
management of the crops easy. It allows the farmer to extinct organisms back to life.
select and grow high yielding crops. CONS: Loss of genetic diversity– disease could wipe out entire
CONS: genetically identical  every organism is crops/populations
susceptible to the same diseases. A disease outbreak Ethical issues relating to the experimentation on human cells and
would spread rapidly. embryos, and human manipulation of nature
GENE CLONING: process of making identical copies of a segment of DNA that codes for a polypeptide from one
organism and inserting it into the genetic material of a vector. The recombinant plasmid is inserted into bacterial
cells, which reproduce via binary fission and act as ‘mini factories’ to make many copies of the cloned gene. Very
efficient process. Produces consistent results, scientists use commercially available enzymes, vectors and kits to do
their experiments. Polymerase chain reaction amplifies a particular DNA sequence.
1. Gene is cut from organism using restriction enzymes and then pasted into a vector DNA/plasmid via ligation
(ligase joins fragments).
2. Transformation: plasmid containing the gene is introduced into a host cell.
3. Host cell can now make copies of the vector DNA when it makes copies of its own DNA.

THERAPEUTIC CLONING: creation of a cloned embryo for the purpose of producing embryonic stem cells (are
pluripotent- can differentiate into almost any cell in the body). Has potential medical applications e.g.,
repair/replacement of damaged tissue caused by injury or disease. Concerns about the potential formation of
tumours/ethical issues from destruction of embryos. Cloning ES cells is relatively efficient, but it is challenging to get
them to differentiate into the desired cell types. Embryonic stem cells:
1. The nucleus of a somatic cell e.g., skin cell from a human is combined with an enucleated donor egg
(oocyte).
2. Nuclear transfer (nucleus from skin cell injected into the enucleated egg)
3. When the embryo has developed to the blastocyst stage, ES cells are harvested which destroys the embryo,
and then grown in culture medium with special growth factors that cause them to differentiate into a
desired tissue.
4. Required cell used to repair diseased or damaged tissue e.g., muscle.
 Induced pluripotent stem cells (iPSC) which are derived from the person receiving the treatment, so they are less
likely to cause an immune response when reintroduced. Neutrons, blood, liver cells and egg, sperm and bone
precursor cells have already been produced from iPSCs:
1. Somatic cell (culturing)  Reprogramming cultured somatic cells.
2. Induced pluripotent stem cells- transcription factors are expressed and reprogram somatic cells into induced
pluripotent stem cells (differentiation)  Different type of cells.
 evaluate the benefits of using genetic technologies in agricultural, medical, and industrial applications
APPLICATION EXAMPLE ADVANTAGES DISADVANTAGES
Agriculture (crops): can Transgenic crops Reduces use of chemicals, Less Killing weeds reduces food supply for
be made pest resistant for example: Bt likely to kill on-target pests, wild animals. Negative impact on food
e.g., Bt cotton, increases cotton, and Golden Reduced soil compaction because chains.
productivity of Rice (vitamin A). machinery is on the land for less Potential cross-breeding and
marginalised land, and time. Increased crop yield contamination of wild species.
enhanced nutrients because of reduced competition Development of resistance in target
from pests and weeds. Less tillage species. Non-target invertebrate species
and soil degradation. Decrease in may also be killed. Possible decline in
labour/fuel use. crop biodiversity. High cost of seeds.
Agricultural (animals): Aquaculture e.g., Faster growth rates. Research is time consuming/expensive.
producing better suited AquAdvantage Increased revenue for farmers. Difficult to create because traits are
varieties. salmon often controlled by multiple genes.
Artificial Potential side effects. Transgenic
insemination. organism may escape into the wild and
introduce transgenes into the
environment.
Medical: could Genetic testing, More efficient testing and Inaccessible due to cost.
individualise treatments, personalised treatment procedures. Reduced
produces value products medicine. cost to the healthcare system.
e.g., insulin RNA vaccines,
CRISPR
Industrial: making Production of Reduction of waste such as The use of biological processes may not
compounds for industrial chemicals, chemical solvents and heavy be as efficient as chemical processes.
uses. polymers and metals. Waste by-product less Developing new techniques is expensive
biofuels using likely to require treatment. in the short term.
bioprocessing. Environmentally sustainable
Food and fibre products (e.g., biofuels that can
bioprocessing. absorb heavy metals from
Extraction of contaminated sites aiding
metals. remediation of mine sites,
reducing harm to enviro). Less
water used in production.
Recombinant plasmids: quickly
cloned.
 evaluate the effect on biodiversity of using biotechnology in agriculture: can increase/decrease genetic
diversity. E.g., selective breeding increases the gene pool in the short term but if selected for, will ultimately
decrease the gene pool.
Biodiversity: various kinds of life found in a place/difference between animals of the same species (genetic diversity:
total alleles in gene pool).
Case study: provision of nutritional food in large quantities is essential to sustain the food demands. GM plants are
faster growing/nutritionally superior. Roundup ready soy were produced to be resistant to glyphosate in the
herbicide Round-Up enabling farmers to spray for weeds in soy plants without harming the plants (took genes from
agrobacterium, inserted them into a bacterial plasmid). In Brazil, large areas of rainforest have been cleared for
soybean plantations (killing plant and animal species). Has been concern about effect of glyphosate on sensitive
rainforest ecosystem. Glyphosate is safe for human consumption in small amounts however it has been found that
the chemical residual amounts are quite high. Weeds that are resistant to glyphosate will require extra herbicides.
 GM seed dispersal is tightly controlled for the negative effects it could have on ecologically sensitive areas. Run off
into neighbouring rainforests and aquatic environments could affect sensitive organisms even at low concentrations.
CONVENTIONAL AGRICULTURE AGRICULTURAL BIOTECHNOLOGY
CROPS Biodiversity is reduced because habitat is destroyed to GM crops may limit loss of biodiversity by growing
access fertile land, and herbicides/pesticides kill non- on marginal land. Require less
target species/pollute waterways. Aquatic biodiversity is herbicides/pesticides, which reduces negative
reduced because large-scale irrigation drains rivers and effects on food chains. Drought-resistant GM
waterways. Pollination depends on wind/animals which crops protect biodiversity because crops need less
maintains genetic diversity. water. Artificial pollination reduces genetic
diversity because pollen from only one parents is
used.
LIVESTOCK Animals mate randomly maintaining genetic diversity. Artificial insemination reduces genetic diversity.
AQUACULTUR Overfishing of natural fish stocks reduces genetic and Species diversity may decline if escaped GM fish
E species diversity. Genetic diversity is high because of out-compete wild species.
gene flow between individuals.
 assess the influence of social, economic, and cultural contexts on a range of biotechnologies.
SOCIETY: Biotechniques are dictated by the needs of society, government choices, wealth of individuals and economic
status of the country. E.g., DNA fingerprinting in forensic science/paternity testing. Time consuming/costly, not
available in under-developed countries.
Education level: can influence a person’s ability to make decisions about biotechnology risks/benefits
(vaccination hesitancy)
Social media: is often personal opinion over evidence. Targeted advertising reinforces a person’s current belief
system (conf. bias).
Geography: countries have different priorities based on their environment e.g., Australia supports skin cancer
research.
CULTURE Dependent on ideas and beliefs of people who make up society (religious/moral/ethical/educational background
influences opinions). Religions: view fertilisation as the beginning of life, use of embryos in biotechnology as
destroying a life (life is a ‘gift from God’; Naturalistic fallacy: natural is good). Dominant religious beliefs may limit
scientific progress. Some religions prohibit the consumption of certain animal products e.g., the cattle are sacred
in Hinduism. Jehovah’s Witnesses refuse blood transfusion on biblical teaching.
ECONOMI A lot of research/development required in bringing GMOs to consumers. GMOs are often patented
C (biotechnology company owns rights to a particular technology), giving multinational cooperations a monopoly.
Small scale farmers in developing cannot afford to buy seeds for GMOs, stimulating unequal distribution of
wealth. GMOs can be produced in greater volumes for the same/less cost, farmer receives greater financial
returns, and the consumer pays less. Personalised cancer therapy: using antibodies costs $100,000-$200,000 per
year for each patient (too expensive, cannot be subsidised by the public healthcare system). Limits advances.
Public health and prevention: governments invest in screening and vaccination programs to reduce the long-
term high costs of treating patients e.g., the National HPV vaccination program in Australia to prevent the
development and spread of cervical cancer.
 Module 7: Causes of Infectious Disease: How are diseases transmitted? CELL THEORY: All organisms are made
of cells, cells are the basic unit of life, all cells come from pre-existing cells. Germ theory: disease and decay are the
product of living organisms.
 describe a variety of infectious diseases caused by pathogens:
Health state of complete physical, mental and social well-being.
Disease Any process/condition that disturbs the normal functioning of the organism forms signs/symptoms.
Infectious caused by pathogens and can be transmitted from one person to another.
disease
Pathogen agent that causes disease or illness in a host (usually microscopic-
(uni/multi/ live/reproduce at the expense of the host causing disease by releasing toxins,
non- cellular). damaging tissue or competing for nutrients). When microbes are not in balance,
Classified they can become pathogenic e.g., prions, viruses (hijack the cell), bacteria
based on size, (archaea), protozoa (nucleus. No cell wall), fungi (filamentous/yeast) and
cellular microparasites (multicellular parasitic animals): endoparasites/ectoparasites e.g., tick/flea.
nature.  Obligate pathogen: organisms that cannot survive for long outside of the human body.
 Opportunistic pathogen: is normally commensal but can cause disease when the host's resistance is
altered.
Infectious Caused by an organism/infectious agent that get into the body and cause problems (contagious). Likelihood =
pathogenicity/host defence.
communicable disease: can be transmitted from plant-plant or animal-animal.
Virulence Allow pathogens to inhabit its host more effectively e.g., antibiotic bacteria resistance.
factors
Size: (biggest  smallest): microparasites, fungi, protozoa, bacteria, viruses, prions
PATHOGENS DISEASE TRANSMISSION DESCRIPTION
Non cellular/non-living: not composed of cells, need a host to grow/reproduce. Can be seen with an electron microscope.
PRIONS: contains no genetic material. Creutzfeldt-Jakob Eating infected meat. Triggers normal into resistant
Modified/ misfolded proteins of 200-250 disease (humans) Contaminated medical prion protein (responsible for
amino acids long causes degenerative equipment. Organ breaking down incorrectly folded
diseases of the nervous system. Found in transplant from proteins). Brain tissue is
the brain/spinal cord. No cures. infected individual destroyed, individuals lose
neurological function.
VIRUSES: have genetic material. Unable Influenza- influenza Inhaling respiratory Causes fever, coughing, sore
to reproduce without host. Have virus droplets (coughing, throat, runny nose, contagious
protective protein coat (capsid). sneezing, talking). respiratory illness.
Attaches to cell, enters cells to make Tobacco mosaic virus Insect. Contact with Discolouration and mottled
copies of itself (DNA makes copies of disease caused by infected plant/ browning of leaves.
RNA). Uses host membrane to form their TMV. contaminated
own lipids. equipment
Cellular: composed of cells e.g., meningococcal (bacterial) can be vaccinated against- severe.
BACTERIA: (unicellular) with cell wall. Tuberculosis Inhalation of shed Primarily affects lung tissue. When
Prokaryotic. Reproduce asexually via (mycobacteriu bacteria. active, highly contagious and
binary fission. Have bacterial m tuberculosis). Produces harmful presents with persistent coughing
DNA/plasmids. Some have a toxins/chemicals. and leads to significant tissue
polysaccharide capsule protecting from Direct/ indirect. Forms damage. Growing concerns with
host immune system. Good bacteria = endospores lying rise of antibiotic-resistant strains.
lactic acid bacteria enhance lactose dormant for yrs.
digestion. Fire blight (Erminia Insect. Contact with Affects all parts of pome fruit
amylovora) infected (apples and pears) plants, makes
plant/contaminated plant look burnt.
tools.
PROTOZOA: unicellular eukaryotic no Malaria caused by Bite from infected High fever shaking chills and flu-
chloroplasts or cell wall. Binary fission. plasmodium genus P. female mosquito. like illness caused by rupture of
Have flagella. falciparum. red blood cells and damage to
blood vessels.
Phloem necrosis in Insect vector feeds from Yellowing of leaves eventual root
coffee plants. infected plant and dieback and death of the plant.
carries.
FUNGI: uni/multi-cellular. Eukaryotic Tinea caused by Tinea Contact with infected Itchy white patches between toes,
heterotrophic have a cell wall of chitin. pedis (athlete’s foot) skin scales/fungi in sore, flaky.
Heterotrophic no chlorophyll. Moulds: damp area.
composed of tubular filaments (hyphae) Powdery mildew Wind or water borne. white powdery appearance (large
forming to make mycelium. caused by many Contact with infected numbers of spores).
hundreds of species. plant or contaminated
equipment.
MACRO ORGANISMS: Multicellular Endoparasite: taeniasis Contracted by cattle Abdominal pain, loss of appetite
eukaryotic visible to naked eye. caused by Taenia after ingesting and weight loss. Tapeworm
Endoparasites: live in hosts body saginata (beef tapeworm larvae. segments area passed in faeces.
(flatworm). Ectoparasites: live outside tapeworm) Contracted by humans Rash and flu-like symptoms often
the body (flea). Cause disease directly or after ingesting associated with joint pain/weakness
as vectors that transmit other undercooked meat in limbs.
pathogens. Ectoparasite: lyme that contains Paralysis tick secretes a neurotoxin.
Helminths- worm-like organisms inside disease, is contracted tapeworm. Results in loss of muscle control,
the gastrointestinal system living off from bite of an difficulty breathing, heavy salivation
nutrients. Reproduce via laying eggs infected paralysis tick. Bite from tick. and unconsciousness. In animals
maturing in host. leads to respiratory or heart failure.
Parasitic arthropods: invertebrates Mosaic virus diseases: Aphid/insect vector Aphids are sap-sucking insects. They
acting as a vector for diseases. E.g., result of organism via feeding. transfer the virus between plants by
fleas, lice, ticks. acting as a vector. eating from an infected plant before
moving to a non-infected plant.
Causes irregular colouring/shaping
of leaves.
o investigating the transmission of a disease during an epidemic

Pandemic: a new disease or a new variant of a disease that has spread across a wide geographical area often
worldwide.

Endemic: is a disease known to have a long-term presence in a specific region. E.g., malaria (cases mildly fluctuating).

Epidemic: outbreak of an infectious disease that spreads rapidly among many individuals (population) within a
defined geographical area within a short period of time. E.g., covid in its first instance. Causes of epidemic:

 Weather conditions: malaria increases in the tropical wet season because mosquitoes breed more
successfully. Heavy rains are linked to outbreaks of diseases transmitted via the faecal-oral route as they
overflow the sewers contaminating water supplies/food.
 New pathogens appear: AIDS was recognised in 1981 having been transferred to humans from certain
species of African monkeys.
 Old pathogens reappear: influenza virus occurs in a number of genetic “strains” which mutate and alter their
“antigens”.
 Migration into new population: Europeans exploring/colonising America/Asia introduced measles to native
populations.

Zika virus epidemic in Brazil is caused by the Zika virus. Symptoms: very mild- fever, rash and headache or no
symptoms. The disease is problematic for pregnant females as it can pass through the placenta to the baby and
result in miscarriage, preterm birth or birth defects. Transmission: zoonotic pathogen- primarily by the bite of an
infected mosquito. Secondary: from mother to foetus. Zika was first identified in a sick monkey in 1947. In 1952 the
first reported human case was confirmed and it has subsequently been detected in nearly 90 countries. In 2016, the
WHO declared a Zika virus epidemic in Brazil (an estimated 1-1.5 million infections occurred). By mid-2017, cases of
the disease dropped to zero, scientists believe it was due to a combination of seasonal weather patterns that
impaired the mosquito vector, vigilant control measures and a degree of herd immunity that results from the high
levels of infections.

Modes of transmission of infectious diseases, including direct contact, indirect contact, vector transmission: involves
carrying or transfer of a pathogen from an infected host  non-infected organism. Mode relates to ability of
pathogen to survive outside a host cell. The gut can act as a reservoir for pathogens. For a disease to be spread it
needs a host that is susceptible to the disease, a disease-causing pathogen and a mode.

Direct contact: transfer of the pathogen via exposure to infected skin or body secretions (physical contact between
the host and a non-infected organism). Contact between organisms that are not parent and child- horizontal
transmission. Contact between offspring and parent- vertical transmission. Physical contact: touching, sexual
transmission: (infection with certain bacteria, viruses, or other microorganisms that can be passed from one person
to another through blood, semen, vaginal fluids etc. e.g., HIV), kissing, direct contact, prenatal or perinatal. E.g., HIV,
herpes simplex virus. Ebola: by a virus which is endemic in African fruit bats it is able to infect various other
mammals including humans who make contact with an infected animal. E.g., by hunting for bushfood.

Indirect contact: transfer of the pathogen to a new host via a non-living object (no physical contact). Infection occurs
from a reservoir created by the host outside itself (contaminated materials and surfaces/objects). A fomite is any
object or substance that carries infection. Airborne diseases (through respiratory droplets: sneezes contain tiny
droplets containing millions of virus particles E.g., flu, mumps, measles, TB etc) are concerning, difficult to control.
They may also occur via a vector. Includes: airborne transmission, touching infected surface, contaminated food,
infected surgical instruments, vectors e.g., mosquitos.
  FAECAL-ORAL ROUTE: e.g., polio. Many pathogens infect or live in the digestive system, and they shed
infective cells, spores, or eggs in vast numbers in the host faeces. Primitive sewerage systems can
contaminate local water especially in tropical weather.

Vector (living- vehicle- non-living) transmission: transfer of the pathogen via another organism such as arthropod
(indirect) e.g., mosquitos, sandflies, ticks (unharmed by can transmit the bacteria/virus when they bite the host;
usually bloodsucking and transmits the pathogen during a meal). Most common in warm, humid parts of the world
where conditions for insect survival/reproduction are favourable e.g., malaria.

Design/conduct a practical investigation relating to the microbial testing of water or food samples: IV: source of
water. DV: number of colonies recorded. CV: equal volumes collected, same temperature and incubation time.
Reliability: repetition/averaging of consistent results. To improve accuracy could include technology to better count
microbial colonies. Method: collect water samples from different sources in sterile test tubes. Use sterile techniuqes
to add each water sample to a different agar plate. Close and seal. Repeat 5 times for each sample. Incubate all
plates at 30 degrees for 1 week.

 investigate the work of Robert Koch and Louis Pasteur, to explain the causes and transmission of infectious
diseases, including:

Koch’s postulates: criteria designed to establish a causal relationship between a pathogen and a disease. Been
controversially generalized to other diseases. Koch hypothesised that each infectious disease was caused by a
specific pathogen. Highlighted transmission of infectious disease occurs when an infected individual passes on the
causative pathogen to a non-infected individual. E.g., examined sheep blood who died from ‘anthrax bacteria’ which
he isolated. This was then injected into a healthy sheep which developed anthrax.

1. The microorganism must be found in abundance in all organisms suffering from the disease but not found in
healthy organisms. (Later discovered asymptomatic carriers of cholera). Might also be very low in
number/not visible.
2. The microorganism must be isolated from a diseased organism and grown in pure culture (doesn’t apply to
pathogens incapable of growing in pure culture e.g., viruses are incapable of growth alone). Vibrio cholerae
was also isolated from healthy patients.
3. The cultured microorganism should cause disease when introduced (inoculated) into a healthy organism-
same symptoms. (Tuberculosis- not all organisms exposed to an infectious agent will acquire the infection-
different immunity)
4. Microorganism must be re-isolated from diseased experimental host and identified as identical to the
original causative agent.
Culture maintain (tissue cells, bacteria, etc.) in conditions suitable for growth.
Growth Nutrient Broth. solution freed of microorganisms by sterilization containing the substances required for
media microorganism growth.
Host an animal or plant on or in which a parasite lives.
Opportunistic Infections: that occur more often/are more severe in people with weakened immune systems than in healthy
people.
Pasteur’s experiments on microbial contamination: Pasteur performed his swan-neck flask experiments which
disproved the theory of spontaneous generation (life originated spontaneously from the non-living decaying and
rotting matter) and clearly demonstrated that microbes are airborne (microorganisms come from pre-existing micro-
organisms) and could therefore be transmitted from an infected to a non-infected individual. He proposed the germ
theory which states that specific microbes are the causative agents of infectious diseases. This assisted him in
developing vaccines to chicken cholera, anthrax (He took 50 sheep and provided two doses of attenuated vaccine to
25 while the other 25 sheep had no vaccine, exposure to pathogen, after 3 days the vaccinated sheep remained
healthy and the rest died) and rabies.
Hypothesis: life doesn’t spontaneously generate but is airborne. Pasteur began with two swan-neck flasks containing
meat broth, both were boiled to kill any microbes present. They were not sealed and therefore were exposed to air.
1. Control: the swan neck remained in tack  no bacteria present.
2. The swan neck was removed, and contents exposed to air bacteria is present trapped at the base of the
swan neck.
Assess the causes/effects of diseases on agricultural production: 20-40% of global crop production is lost annually to
pests and diseases (cost of over $300 billion). 20% of livestock is loss to disease (reduced productivity). These losses
limit the availability of food, fibre and dairy products. The growing food demands typically require a move to
industrial scale farming practices. While these practices produce higher yields of the desired product at a cheaper
cost, large numbers of genetically similar animals and plants are kept in extremely close proximity to one another
increasing risk of disease transmission. Transportation of products globally increases the risk of disease
transmission/outbreaks.

Plant- Panama disease: caused by a fungal pathogen Fusarium oxsporum found in the soil. Majority of bananas
grown are propagated asexually (chosen for their sweetness/size)- genetically identical placing crops at risk of
disease outbreaks. 1950s: dominate crop of Gros Michel cultivar was infected. The fungus enters the plants vascular
tissue blocking the xylem and preventing water/nutrient transport causing the plant to wilt and die. Late 1950s:
Cavendish was found to be resistant to Panama disease while also producing higher yields (currently constitutes 50%
of the total world banana production and 99% of the worlds export market). An estimated 50 billion tonnes of
Cavendish bananas are produced globally each year, with export value of over 10 billion. In Australia, banana
production is valued at over 450 million. 1989: a new strain Tropical Race 4 was discovered in Taiwan in a Cavendish
banana crop, which has now spread around the world and has been detected in Australia and all major banana-
growing countries. It is anticipated that the world’s banana crops will be decimated in the next decade if new
alternatives are not developed.

Animal- Newcastle disease: highly contagious disease of birds (concerning to poultry industry- because there is high
morbidity which has a significant impact on poultry meat and egg productivity and therefore income revenue)
caused by Newcastle disease virus (NDV)

 Symptoms: lesions on proventriculus/gizzards/duodenum, oral/nasal discharge, bright green diarrhoea,

neurological impairment.
 Transmission: spread by other birds (problematic in battery cage farming), through droppings/secretions
form infected birds.
 Prevention: NDV-free countries e.g., Australia, place restrictions on the importation of animal products from
regions where the disease is endemic. When outbreaks occur all chickens are killed.
 Economic impact: The Australian chicken egg and meat industries are valued over $825 million and $2.5
billion per annum respectively. Even a small ND outbreak in Australia would impact significantly on the
egg/meat industry (countries import from NDV-free countries only). 2002-2003 outbreak in USA required the
culling of over 3 million birds at an estimated cost of $230 million.

Fungi- Dry Bubble disease: is a fungal disease of commercially grown white-button mushroom caused by
Lecanicillium fungicola. Symptoms: late infections causing brown lesions. Early infections: deformed masses of
undifferentiated mushroom tissue. Highly contagious with spores spread easily through water and air. Grown
asexually  low genetic variation (highly susceptible to outbreaks) BUT produces crops of great quality/quantity.
Australia produces over 70000 tonnes of mushrooms per annum ($450 million), while the global market is valued
over $65 billion. Currently, dry bubble disease is estimated to cost the industry 5% of total annual revenue. Plastic
bottles filled with salt kill the disease.

 compare the adaptations of different pathogens that facilitate their entry into and transmission between
hosts.

Case study 1: Plasmodium Falciparum (malaria): there are five species of protozoan from the plasmodium genus that
causes malaria (unable to survive outside host).

1. A female mosquito takes a blood meal (injecting with a proboscis) inoculating human with sporozoite
(motile spore-like stage) stage of P. falciparum.
2. Sporozoites migrate to liver via capillaries and infect hepatocytes (liver cell). Sporozoites reproduce
asexually by multiple fission to produce merozoites (host cells rupture and merozoites break out of the liver
and re-enter the bloodstream, where they invade red blood cells, grow and divide further, and destroy the
blood cells in the process).
 3. When in the RBCs the merozoites enter the next stage of the life cycle, called a trophozoite. First, they can
reproduce via multiple fission to produce more merozoites (daughter pathogens) which cause the RBCs to
rupture, releasing the merozoites into the bloodstream to repeat the cycle (causes symptoms: fever, chills,
sweats and anaemia). OR merozoites differentiating into either male/female gametocytes
(microgametocytes and macrogametocytes respectively).
4. The gametocytes are ingested by another female Anopheles mosquito during a blood meal where they
mature in the digestive tract of the mosquito to a form either a male gamete (microgamete) or female
gamete (macrogamete).
5. The gametes fuse to form a mobile diploid zygote (ookinete) which migrates through the midgut wall and
develops into an oocyst (a resistant, thick-walled spore containing the zygote).

Adaptation to facilitate entry into the host: the infected female mosquito must first bite and penetrate the skin. To
obtain a blood meal, the mosquito releases an anticoagulant protein which prevents the blood from clotting and P.
Falciparum exits the mosquito’s salivary gland.

Adaptations to facilitate transmission between hosts:

1. At each stage of pathogen’s life, different antigens are produced, preventing hosts from initiating an
effective immune response.
2. Once it has entered the red blood cells P. Falciparum produces adhesion proteins which are presented on
the surface of the cell. The proteins change the shape of the RBCS’s slowing their movement through blood
vessels. This aids the merozoites in exiting the cell.

Influenza: Only influenza A has caused global pandemics. Symptoms can include fever, chills,
headache, sore throat and coughing and sneezing. Influenza A virus are categorises based on
variations in two surface proteins: haemagglutinin (H) and neuraminidase (N).

Adaptation of influenza to facilitate entry into host: The H and N surface proteins of the
influenza virus have evolved to bind to specific receptor proteins on target epithelial cells
that line the upper and lower respiratory tract. Once inhaled the virus quickly binds to host cells, where it is
endocytosed before hijacking the cell’s genetic machinery to replicate. While inside the host cell, it remains hidden
from the host’s innate and adaptive immune systems.

Adaptations to facilitate transmission between hosts:

1. After the virus has reproduced within epithelial cells, it leaves the cells. As it exits the virus surrounds the
RNA capsule with lipids and glycans from the host cell. (avoids detection).
2. The influenza A virus has a high mutation rate (antigenic drift)- small rapid changes in viral genome and
changes in the H and N surface proteins (antigens) meaning the hosts immune system will not recognise the
virus even if it has been encountered previously. This results in ongoing transmission. Antigenic drift makes it
necessary to develop annual vaccines.
3. Antigenic shift occurs when there is a new version of the H or N surface proteins introduced into the human
population. (This typically takes place when different influenzas virus strains infect an individual at the same
time and swap gene segments in a process called reassortment). The lack of recognition by the immune
system results in rapid transmission of the virus and is responsible for major influenza pandemics e.g., the
2009 swine flu pandemic.
4. Transmission is through inhalation of shed virus in airborne droplets. Symptoms of coughing and sneezing
are highly effective at transmitting the virus. Virus can remain viable on some surfaces for up to 2 days
outside hosts.

Responses to Pathogens: How does a plant or animal respond to infection?

 investigate response of a named Australian plant to a named pathogen: 90% of plant diseases are caused by
fungal pathogens. Airborne fungal pathogens penetrate plant tissues via openings (stomata/lenticels). Soil-
borne fungal pathogens enter via the plants root system. All plants have physical barriers (structural
obstructions protect against microbe entry)/chemical barriers (chemical characteristics that oppose microbe
colonisation) that protect/slow pathogens.
 Fungal pathogens: Phytophthora dieback: is a soil-borne fungal pathogen that affects a wide range of Australian
plant species. 1940s-1970s: a significant outbreak of P. cinnamomi caused the dieback of Eucalyptus marginata over
an area of 300,000 acres in Western Australia. Physical/chemical defence mechanism including cellulose and lignin in
the cell wall which make the cell difficult to penetrate AND secretes a range of antimicrobial chemicals e.g., like all
eucalyptus E. marginata produces an oil (inhibits spread through the plant tissues) which is stored in sub-dermal
secretory glands prevent entry.

Cell and chemical mediated defences: E. marginata and P. cinnamoni case study.
 Gene for gene resistance: plants have resistance genes (R genes) that code for R proteins, which can bind
directly with a specific avirulence (AVR) protein that is coded for by an AVR gene (required for entry of a
pathogen into a host cell). R protein interacts directly with AVR protein. Once bound, the R-AVR complex
prevents the pathogens from infecting new cells. R gene offers broad-spectrum protection against any
pathogen that produces the highly conserved AVR protein. No R gene = increased infection chances.
 Basal resistance: is trigged by the recognition of pathogen-associated molecular patterns (PAMPs) which are
highly conserved molecules common to various pathogens e.g., chitin. Plants can sense ‘self’ damage-
associated molecular patterns (DAMPs) from infected cells. The PAMPs and DAMPS are recognised by host
pattern recognition receptors (PRRs) which result in fortification of plant tissues. Cell junctions and stomata
are closed restricting access to invading pathogens.
 Hypersensitive response (more effective if R-gene AVR gene complex is present- if basal resistance fails).
Activated to restrict/stop pathogens from spreading. Plant cells use chemical signalling to communicate the
presence of a pathogen via protoplasmic strands. The nucleus moves to the site of pathogen contact. 
nucleus begins to disintegrate.  resin-like granules form in the cytoplasm + spread throughout
cell/fungus die (apoptosis).
 Systemic acquired resistance (SAR): non-specific, whole plant response that occurs once the HR has been
triggered. Plant tissues become highly resistant to a wide range of pathogens for an extended period.
Pathogen binds to plasma membrane and induces a signalling pathway (SP).  signalling pathway causes a
hypersensitive response. Before the cells die, they release salicylic acid. which is transported throughout the
plant  leads to production of antimicrobial molecules (prep the plant for any pathogens).

analyse responses to the presence of pathogens by assessing the physical and chemical changes (both are non-
specific- innate immune response) that occur in the host animals cells and tissues

Innate immune system (first line of defence): the body has a range of non-specific physical and chemical
barriers/mechanisms that work together to prevent entry of microbes into the body that the organism was born
with. Response is not improved with pathogen re-exposure.

PHYSICAL BARRIERS Description and location

Skin Upper epidermis contains keratin a protein that helps bind the skin’s cellular matrix making it
impenetrable to microbes (layers of dead, dry cells). Middle dermis contains hair follicles, sweat and
sebaceous glands (produce sebum, which seals the hair follicle preventing access by pathogens).
Hypodermis: bottom fatty layer of the skin and contains blood and lymph vessels (deliver cells involved in
the innate immune response if the skin is breached). It is a difficult environment for a pathogen to grow on
(no water). Skin flakes off, carrying microbes away.
Cilia Hair-like fibres off the epithelial cells which work with mucous membranes to direct trap microbes and
sweep them out and away from the body. Microbes are removed or destroyed via coughing or sneezing or
encountering stomach acid after being swallowed.
Mucous membranes Line the respiratory (mouth/throat), urinary, and digestive tracts. Specialised epithelial cells (goblet cells)
(muco-ciliary secrete mucus (sticky fluid which traps pathogens) which lubricates the membrane and traps any microbes
transport which that enter the body. Microbes are then removed via various methods depending on their location,
disposes of/ejects sneezing, coughing, defecation, or urination.
particles and
‘germs’)
Peristaltic waves of digestive tract mix microbes with stomach acid and mucous membranes. Prevent microbial colonies from
the settling/infecting.
Urine flow (flushing Urine is passed under pressure during urination which removes any microbes present in the urinary tract.
mechanism) Urinary and reproductive openings are also slightly acidic (pH 6) which kills many microbes.
Microflora natural good bacteria which have a symbiotic relationship with humans (act as competitors for potential
pathogens keeping the population in check by outcompeting the pathogens or by creating chemical
conditions that pathogens cannot tolerate). Pathogens become opportunistic e.g., yeast Candida albicans
when microflora is disturbed (Can Lead to Disease).
Reflex action Coughing and sneezing reflexes move dust, mucus and trapped pathogens out of the breathing
passageways. Vomiting removes stomach contents that are making you nauseous, removing pathogens
which have been swallowed.
CHEMICAL BARRIERS Description and location
Acidic and alkaline Specialised stomach epithelial cells (parietal cells) produce hydrochloric acid (pH 1-2) which kills any
secretions microbes that enter via food or water. The duodenum has a pH of 7-8.5. Bile made in the liver is secreted
into the duodenum where it neutralises acid entering from the stomach and creates alkaline conditions.
pH change is usually enough to kill any microbes that survive acidic conditions.
Sebum and sweat See skin. Sebum has acidic pH (4-6) making it an effective bactericide. Sweat has a slightly acid pH (6.5)
which hinders bacterial growth. Sweat also contains a protein called dermcidin which binds to bacteria and
disrupts their function.
Cerumen (earwax) is high in fatty acids which lowers the pH to 4 which kills most microbes.
Lysozymes an enzyme produced by many animals (highly conserved). Degrades cell wall of bacteria by degrading
peptidoglycan. This causes bacteria to swell and burst due to osmosis- lyse (water moving into a
bacterium). They are in salvia, tears, sebum and sweat.
Innate immune system: cellular/chemical responses: if a microbe breaches the barriers of the body, antigen
molecules on the surface of the microbes are recognised by the host as ‘non-self’ which initiates the innate immunes
response (inflammation/phagocytosis).

Innate cellular responses: leukocytes (diverse group of cells- white blood cells that are involved in both the innate
and adaptive immune responses working to fight infections) involved in the innate immune response are either
granulocytes (neutrophils, eosinophils, basophils) which contain enzyme filled granules that damage/digest
pathogens after phagocytosis OR Monocytes which differentiate into either macrophages/dendritic cells, both are
phagocytic (engulf foreign bodies). (Note: red blood cells carry oxygen and are called erythrocytes).

Leukocyte Category Role

Macrophag Acts primarily as phagocytes. Also release chemo attractants which activate other immune cells
e and increase their migration to an infected site. Fixed macrophages are in tissues susceptible to
pathogen invasions (skin, lungs and intestine). Mobile macrophages circulate in the bloodstream
Monocyte and lymph system and are attracted to an infected site by the chemoattractant molecules
released by mast cells.
Dendritic Phagocytic antigen presenting cells (APCs) that express both major histocompatibility complex
cell (MHC) class 1 and 2 molecules on their surface. Bridges the innate/adaptive immune systems.
Circulate in the bloodstream where they capture and phagocytose pathogens directly or are
attracted to an infection site upon detecting chemo attractants.
Mast cell In all vascularised tissue. Stimulate vasodilation (blood vessels in the body widen) and vessel
permeability through release of histamine which leads to increased migration of macrophages
and neutrophils into infected area.
Neutrophil Phagocytic cells make up 50-60% of all leukocytes. Defend against smaller pathogens including
Granulocyte bacteria, viruses and fungi. The death of neutrophils and tissue surrounding an infection site is
visible as pus.
Eosinophil Defend against parasitic infections that are too large to be phagocytosed directly. Attach in a
group to the parasite and release digestive enzymes from their granules to destroy the
pathogen.
Basophil Can phagocytose. Primary role is the release of histamine (causes further vasodilation and
subsequent inflammation) and Heparin (prevents clotting from occurring too quickly which
would otherwise inhibit immune response).
Natural Granulocyte Specialised white blood cell that can recognise body cells from viruses. Do not require prior
killer (NK) (lymphocyte) activation and therefore play a central role in the innate immune system. Continually patrol the
cell body and can distinguish via the MCH 1 receptor pathway between healthy cells and pathogen
infected cells. NK cells will attach to virus infected cells and release chemicals that cause the
infected cell to undergo apoptosis. NK cells can also recognise some tumour cells.
 Inhibitory receptors on NK bond to MHC1 on healthy cells, antigen not present  release cell. If
pathogen is present the MHC1 receptor on the target cell is modified and it binds to the
activating ligand of the NK cell.  Initiates release of cytotoxic chemicals e.g., digestive enzymes
from the granules of NK cells.  causes membrane to degrade/apoptosis.
Inflammation response: occurs at the site of an infection/injury e.g., cut, abrasion, burn. Mast cells are activated
when their pattern recognition receptors (PRRs) detect the presence of pathogen-associated molecular patterns
(PAMPs) on the pathogen’s surface, which causes the degranulation of the mast cells and release of proteases,
prostaglandins and histamine- by mast/basophils (causes dilation of the blood capillaries (and becomes more
permeable) around the injury site allowing more blood/fluids to flow in bringing more clotting factors and phagocyte
cells (causing swelling/putting pressure causing drainage of fluid into the lymph system- washing dead cell debris
towards lymph nodes for disposal thus clearing the area), it also brings heat to the site which can inhibit some
pathogens and speeds up all chemical reactions for faster repairs). The mast cells and fixed macrophages also release
cytokines (interleukins/interferons) which attract phagocytes to the site of infection. Cytokines coordinate the innate
inflammation response and also the adaptive immune response. Interleukins act as messenger molecules between
immune cells while interferons are released by infected cells, triggering surrounding cells to become more resistant
to the invading pathogen. Interferons also signal phagocytes and NK cells to target and destroy infected cells (causes
pain and a fever).

When an organ transplantation occurs, the new organ cells act as antigens and set off an immune response- tissue
rejection. To prevent, doctors use only organs from donors who closely match the patient in tissue type or treat the
patient with immunosuppressant drugs.

The innate immune response includes the secretion of many different proteins that aid defence. Some directly
attack antigens while others help trigger further immune responses e.g., lysozymes, proteins in the complement
system can cause the cells of invading microbes to burst/lysis, cells that have been infected release interferon
(antimicrobial protein involved in response to viruses) which act beneficially on neighbouring cells hindering viral
replication.

Pathogens act as antigens (chemicals recognised as ‘non-self’) and so trigger the immune system as they have
pathogen associated molecular patterns (PAMP’s e.g., carbs, polypeptides, nucleic acids) and lack the self-proteins
associated with host cells. Some pathogens replicate inside cells (intracellularly) while others replicate outside the
cells (extracellularly) e.g., in the blood or interstitial fluid.

Phagocytosis: phagocytes (neutrophils/macrophages/dendritic cells/eosinophils) engulf pathogens (when they

detect antigens of a foreign cell) via endocytosis and leaves them sitting inside a vessel/vacuole which merges with a
lysosome (has acid hydrolase enzymes that digest the contents of the cell, cutting the pathogen into tiny pieces and
then releasing them via exocytosis). Opsonization uses opsonin’s to tag foreign pathogens for elimination by
phagocytes. Phagocytes can wrap around a pathogen/squeeze out of the bloodstream moving among tissue cells.

Complement system: (enhances ability of antibodies/phagocytic cells to clear microbes/damaged cells from an
organism) a group of up to 30-50 cleavable proteins (circulating through the bloodstream) that become activated
when they encounter a pathogen (recognise an antigen). Activation triggers a cascade (proteins cleaving other
proteins) that coat a pathogen in complement proteins which enhances the binding of antibodies to the pathogen
and phagocytosis. Also increases inflammation. Some proteins act directly on the cell membrane of pathogen to
destroy them causing cells to lyse.

The lymphatic system: a network of delicate tubes throughout the body which drains fluid (lymph) that has leaked
from the blood vessels (plasma seeps out of the capillaries to bath the cells in tissue fluid keeping the cells moist for
gas exchange) into the tissues and empties it back into the blood stream via the lymph nodes, it also cleans the body
system. Lymph tubes are one-way drainage system from all body extremities to a point near the heart where tissue
fluid is dumped back into a vein to re-join the blood. Tissue fluid is squeezed through by surrounding muscles and
the tubes have valves to prevent back flow. At various points along the lymph vessels there are lymph nodes (small
lumps of tissue containing white blood cells which fight infection, they filter lymph fluid composed of fluid and waste
products from body tissues) which traps fluids. If there is an infection, it is likely the pathogen will be carried along
by the lymph fluid causing the pathogen to spread however phagocyte containing lymph nodes generally prevent
that. When fighting infections lymph nodes become swollen and painful.
 Immunity: How does the human immune system respond to exposure to a pathogen?
Antibodies: IgM, blood proteins produced in response to encountering a specific antigen. Naturally
IgA, IgD, IgG, IgE produced by plasma B cells in response to antigen exposure (play a critical role in the
(immunoglobulins immune systems defence). Specific antibodies bind to specific antigens. Quaternary
) proteins consisting of four polypeptides: two heavy chains and two light chains joined to
form a Y shaped molecule. The ends of the heavy and light chains form variable regions that are unique to
each antibody and act as the antigen-binding site.
Antigen Foreign substance/substances usually peptides/proteins recognised by the body/host as non-self and
trigger production of antibodies.
Apoptosis when cells are so thoroughly infected, the area is sealed off and body cells are given a chemical instruction
(programmed cell to ‘commit suicide’. Cells produce enzymes to chop the cell DNA to pieces. Special antigens appear on the
death) cell membrane which attract phagocytes to destroy the cell/pathogen. Sometimes an affected site will be
walled off by a layer of cells forming a capsule/cyst that isolates the infection.
Antigen Mediates the cellular immune response by processing and presenting antigens on their surface for
presenting cells recognition by lymphocytes e.g., T cells and provides a place for the helper T cells to dock.
B cells (activate are white blood cells that make antibodies, they’re in circulation in the blood. Have their own receptor
humoral bound antigens. Produce in/mature in bone marrow.
immunity)  Plasma cells: secretes immunoglobulin or antibodies.
 Memory B-cells: long-lived and quiescent cells that are poised to quickly respond to antigens.
Humoral immune (anti-body mediated immunity) Involves B cells and antibodies which deals with antigens from pathogens
response dealing that are freely circulating or outside the infected cells (extracellular antigens). Includes secreted
with B cells/anti- antibodies, compliment proteins and certain antimicrobial peptides located in extracellular fluids. Random
bodies processes create millions of variants of B cells, which have different antibodies on their surfaces. If a
specific B cell has the right antibodies on its surface to bind an antigen, then the B cell becomes activated.
It will then proliferate/replicate by making many copies of itself. Some copies form plasma B cells which
mass produced the same antibody while others differentiate and become memory B cells.
Cellular immunity is an immune response that does not involve antibodies. Rather, cell-mediated immunity is the activation
of phagocytes, antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response
to an antigen. (intracellular pathogens).
T-cells (produced They kill/ attack body cells that are infected by pathogens. If the pathogen is intracellular e.g., viruses.
in bone marrow, They are divided into:
mature in thymus)  CD4-helper t-cells: sense an infection and activate other immune cells to fight e.g., activates
cytotoxic T-cells.
 CD8 cytotoxic t-cells: immune cells that can kill certain cells (foreign cells, some cancer cells and
cells infected with a virus)
 Memory T cells: trained to recognise specific antigens triggering a faster/stronger immune
response.
 Suppresser T cells: reduce the activity of other T cells when necessary.
Immunisation intentional exposure to a pathogen to prevent infection. E.g., small pox survivors, created the concept of
vaccination.
Lymphocytes are white blood cells uniform in appearance but varied in function and include T, B, and natural killer cells
Opsonization Immune response which uses opsonin’s to tag foreign pathogens for elimination by phagocytes.
Antibodies and complement components coat dangerous antigens to be recognised by antibodies or
complement receptors on phagocytes. Molecules, microbes or apoptotic cells are chemically modified to
have stronger interactions with cell surface receptors on phagocytes and antibodies.
Cytokines Intercellular chemical messengers that initiate and constrain inflammatory responses to pathogens.
Example: Interferon gamma: critical to both innate/adaptive immunity. Functions as the primary activator
of macrophages, stimulates NK cells and neutrophils.
Effector cells A cell that performs a particular function in response to a stimulus (have encountered a specific antigen
and is involved in removal).
Memory cells circulate after the antigen has been eliminated. Memory cells initiate a quick immune response if the
antigen is encountered again.
 investigate and model the innate and adaptive immune systems in the human body.
 explain how the immune system responds after primary exposure to a pathogen, including innate and
acquired immunity.
Adaptive or acquired immunity (improved with re-exposure): immune responses that are developed (learned) and
remembered against a specific pathogen (produces an immunological memory of antigens encountered).
Lymphocytic cells (B and T cells) are able to identify specific pathogens by their antigens and adapt the defences to
accurately target specific pathogens (will be destroyed in current and future infections). Adaptative immunity is split
into natural immunity is spit into passive (maternal- given to you naturally during development and post-natal e.g.,
antibodies in breast milk) and active (infection) OR Artificial immunity is divided into passive (antibody transfer-
purified antibodies, naturalising agent) and active (immunisation). Adaptative immunity offers a rapid and highly
effective response to specific antigens that have been encountered.

Activating the adaptive immune system: all nucleated cells in the body express proteins on their surface (major
histocompatibility complexes class 1- MHC1). Each person has unique MHC 1 molecules, and this allows the cells of
the innate and adaptive immune systems to identify ‘self’ from ‘non-self’ antigens. If a ‘self’ cell has been infected by
a pathogen, it presents the foreign antigen on its surface via the MHC 1 molecules. When an immune cell binds with
the MHC 1 molecule, the foreign antigen is recognised, and an immune response will result.

Antigen presenting cells (APC) e.g., macrophages, dendritic cells and B cells, also express MHC 2 molecules. After
phagocytosis a pathogen is digested, and a portion of the pathogen is expressed on the surface of the phagocyte via
the MHC 2 molecule. The APC then migrates to the lymph system where it presents the specific antigen to helper T
(Th) cells via the MHC 2 molecule or to cytotoxic T (TC) cells via the MHC 1 molecule.  activates adaptive immune
system.  Th and Tc cells mature and proliferate.

Helper T cells activate the antibody-mediated (immunity) response. The Th cells bind (via their T cell receptors) to
the MHC 2 molecule of naïve B cells that are expressing the same specific antigen that activated the T h cells. Th cells
also release cytokines, promoting rapid clonal expression of the B cell population specifically linked to the identified
antigen.

Each naïve B cell contains a unique B cell receptor (BCR) capable of recognising a specific antigen. The antigen is
processed and presented on its cell membrane via MHC 2 molecules. The activated B cells differentiate into memory
B cells or plasma cells which act as antibody factories. The circulating antibodies bind directly with antigens to form
an antibody-antigen complex preventing them from causing further infection and making them easier to
recognise/be destroyed by phagocytes. Memory B/T cells provide ongoing immunity as their receptors are specific to
a previously encountered antigen.

Cell-mediated immunity: antibodies are unable to bind antigens within a cell. As a result, the cell-mediated immune
response is required to target pathogens that have already infected host cells. This process is regulated by T cells,
which only recognise antigens when they are expressed on the surface of an APC (via MHC2 molecules) or an
infected cell (via MHC1 molecules). All T cells express a T cell receptor- cluster of differentiation 3 (TCR-CD3) receptor
complex which is required to bind both MHC 1 and MHC 2 molecules. The CD3 receptor is highly conserved while the
TCR is highly variable to account for different antigens. Different types of T cells are classified based on their
additional surface CD receptors. E.g., Th cells express CD4, and Tc cells express CD8 which are also required to bind
MHC2 and MHC1 molecules of APCs respectively.

The cell-mediated response is activated when an APC presents a specific antigen via an MHC 2 molecule to a
complementary Th cell. The Th cells then release cytokines to activate the mass cloning of Tc/Tm cells with receptors
specific to the antigen. Activated Tc cells exit the lymph system and migrate to the site of infection, where they bind
via their specific receptor to infected cells presenting the antigen via their MHC1 receptors. The Tc cells degranulate
releasing cytotoxins including perforin, which lyse the cell, killing any pathogen within it. T c cells perform a similar
function to NK cells with 1 difference: they require activation (adaptive immune response). Once an infection has
been defeated, regulatory T (Treg) cells are produced. Treg cells release cytokines that prevent further production of Tc
cells and B cells. Most circulating immune cells linked to the defeated pathogen die off, except for a population of
memory T and B cells (remain circulating or accumulate in the spleen/lymph system, where they will rapidly
proliferate to very large numbers if they are exposed to an antigen they have encountered before).

Primary response: time taken to fight the infection is quite long (T/B cells have to be activated and proliferate.
Cytotoxic T cells need to kill the infected cells and for the B cells to produce plasma cells that then secrete antibodies
and bind with the antigen to neutralise it). Memory T/B cells specific to the antigen are produced and remain in the
 body. Thus If the same antigen were to re-enter the body in the future the secondary response, is much quicker.
After identification of the antigen, the memory cells will activate the production of the cytotoxic T cells and the B
cells. Many B cells will then form many plasma cells, which secrete a much larger number of antibodies than in the
primary response (destroys the invading antigens before their numbers are large enough to cause any symptoms).

Prevention, Treatment and Control: How can the spread of infectious diseases be controlled?
 Investigate/analyse wide range of interrelated factors involved in limiting local, regional/global spread of a
named infectious disease.

Knowing the cause and transmission methods of infectious diseases allows government and health authorities to put
in place appropriate preventative and control measures to minimise spread. To limit the spread, contact between
infected and non-infected individuals must be kept to a minimum. Considerations measures to be implemented
include: virulence of the pathogen, its incubation period, and population density + mobility. COVID-19 (caused by
viral pathogen SARS-CoV-2): In 2020, the WHO identified a ‘novel’ virus that caused pneuma-like symptoms in fewer
than 100 individuals in Wuhan, China. Soon after the disease was identified, the number of new infections and
deaths started to grow exponentially. Chinese authorities placed Wuhan and surrounding regions into strict
lockdown, quarantining 20 million people. By late January the virus had been detected in Europe, Asia and the USA.
COVID-19 met the 3 criteria to be categorised as a pandemic: illness resulting in death, sustained person-to-person
spread, worldwide spread. In under two years global infections reached 350 million.
Local Forced two-week quarantine for individuals returning from overseas, fines for breaches. Forced lockdowns,
(most mandatory mask wearing in all public spaces, night-time curfews, and travel bubbles where enforceable. ‘Pop-up’
specific) testing and tracking facilities. Mandatory vaccination required for certain professions. Proof of vaccination
required to enter businesses/public facilities. Measures were monitored/enforced.
Regional ‘Hard’ border lockdowns to restrict movements within/between states. Extended lockdowns with heavy
restrictions on the liberties and movement of residents. Government approval/permits required to travel into
regional areas. National Cabinet formed to address the specific health and economic needs of each state. Staged
approach to the vaccination rollout, with elderly and vulnerable populations prioritised. Financial incentives
provided to support people forced into unemployment. ‘No jab, no play’/‘No jab, no pay’ legislation.
Global WHO: responsible for the global governance of health/disease. It directly communicates with policymakers at the
national and regional levels to inform them of trending disease patterns. It also recommends and supports specific
strategies to limit disease spread. E.g., Mathematical modelling to track and predict spread to the different virus
variants (allowed regions to be proactive). Coordinated approach involving thousands of scientists and public
health authorities, to produce and distribute vaccines (within 18 months multiple companies had produced
vaccines). Planning/building of emergency operations centres, training of health workers, financing of vaccination
programs.
 investigate procedures that can be employed to prevent the spread of disease, including but not limited to:

Hygiene (conditions/practices that assist in maintaining health/prevent disease spread) practices: either kill microbes
or reduce the likelihood of an infected person passing on the pathogen. Prior they didn’t have hygiene practices e.g.,
doctors wore the same pus-smeared gowns.
Level Details Examples
Personal Practices individuals can do to maintain good e.g., handwashing after defecating/before eating/handling food,
health and minimise the risk of becoming bathing, correct respiratory hygiene when coughing/sneezing,
infected/infecting others. sexual protection.
Domestic Practices done at the household level to e.g., keeping raw/cooked foods separate, cooking food for the
minimise disease spread/focusing on food appropriate time/temperature, storing food correctly, clean
storage and preparation. water for cooking.
Community Large-scale infrastructure programs that focus e.g., water treatment/purification (filtration/chlorination),
on providing society with access to clean sewerage removal and treatment, correct animal husbandry,
water/food/sanitary conditions. maintenance of hygiene in markets.
Quarantine: period of strict isolation to prevent the introduction/spread of diseases or unwanted animals, plants,
and pests into the country or across state boarders. Prevents infected individuals from encountering non-infected
individuals. Quarantine period: for a period in which a pathogen is communicable. Australia remains free of many
significant human and agricultural diseases, because of natural water barriers, strict international/interstate
quarantine regimes. Biosecurity strategies that complement quarantine are border inspections, enforced destruction
of diseases animals and plants and banning the importation of organic products from most countries. All practices
are essential in protecting Australia from serious communicable diseases and economic loss. E.g., Australia is free
from foot and mouth disease (which could devastate sheep/cattle herds), malaria and sorghum downy mildew
(fungal pathogen with potential to destroy cereal crops/native grasses).

Vaccination (process of making people (or animals) resistant to diseases caused by specific pathogens) including
passive and active immunity:

Active immunity: occurs when activated B cells differentiate into plasma cells and antibodies are produced. This can
occur naturally when an individual is exposed to a pathogen (becoming ill and recovering- danger is the person might
not survive) or artificially through vaccination. Vaccines works by exposing the immune system to a compromised
version of a pathogen (inducing a primary immune response without symptoms) which then activates the adaptive
immune system, leading to the production of antibodies and memory B and T cells specific to the antigen (provides
long-term protection from the disease). If a secondary exposure occurs the immune response is faster and stronger
due to the presence of circulating antibodies and memory B and T cells generated from the primary exposure (more
effective elimination of the pathogen). Common active vaccines contain:

 a live attenuated (weakened version of the pathogen (e.g., measles, and chickenpox vaccines)
 an inactivated (dead) version of the pathogen (e.g., hepatitis A virus vaccines)
 viral messenger RNA (mRNA) (e.g., some COVID-19 vaccines)

Passive immunity: involves an individual receiving antibodies not

produced by their own immune system. Natural: from mother to foetus
via the placenta or from mother to newborn during breastfeeding
(temporary and starts to decrease after being born) or Artificial:
through vaccination where antibodies are injected directly into an
individual (e.g., certain diphtheria vaccines i.e. blood fractions
containing antibodies). Passive immunity provides an immediate
protection against a disease however because no memory B or T cells
are produced, the protection is short-lived and booster shots must be given if an individual is deemed to have been
at risk of exposure.

Herd immunity: some individual cannot be vaccinated because of age-related or health reasons. When a significant
majority of individuals are vaccinated (around 90%) unvaccinated individuals are also protected as there are fewer
hosts available for the disease to spread between.

Public health campaigns (use media platforms to disseminate information to reach audiences): seek to provide
community members with the necessary information to have them engage in behaviours that improve their health
and prevent the spread of infectious diseases. e.g., 1980s public health campaign to raise awareness about HIV-AIDS
included TV commercials in which the Grim Reaper killed people with a bowling ball. The campaign was graphic and
highly effective and in conjunction with many other initiatives resulted in the incidence of new cases falling in
subsequent decades. National COVID-19 public health campaign: spread across all forms of media including daily
updates of new infections and deaths, health experts highlighting the importance of vaccination and television
advertisements showing people who had contracted the disease, to promote uptake of the vaccination program.
These contributed to round 90% of eligible Australians receiving double vaccinations.

Use of pesticides: help to prevent the spread of infectious animals and plant disease. These chemicals target
pathogens and insect vectors that carry pathogens. While there is still widespread dependence on pesticides, there
is also growing awareness of the impact they can have on people’s health and the environment. Genetic resistance is
also developing; thus pesticides need to continually be developed, or alternated.

Genetic engineering: intentional modification of an organism’s genome to alter its phenotype. It is valuable in
agriculture because of the growing resistance of pathogens and insect vectors to traditional chemical treatments.
E.g. Cotton Bollworm which chews holes in cotton plants and have evolved resistance to pesticides. Scientists have
transferred the soil bacterium into a plant’s genome for the production of a toxin which is lethal to the caterpillar if
eaten creating a transgenic species. CRISPR-Cas-9 has been used to genetically sterilise male Anopheles mosquitoes
(vectors for pathogens e.g., malaria). When the males mate, this causes the wild-types female to become infertile.
  Investigate/assess effectiveness of pharmaceuticals as treatment strategies for control of infectious disease:
Antivirals- off target negative effects (inhibiting the hosts production of polypeptides) (aim to prevent viral particles
entering or developing within the host cells they invade): viruses are non-living pathogens. It consists of nucleic acid
(either DNA or RNA) encased in a protein coat (capsid). Some viruses are also enclosed in a second protective layer-
envelope (consists of lipids derived from the host cell’s membrane and viral proteins that play a role in infecting new
cells). DNA viruses cause hepatitis B and herpes. RNA viruses cause HIV and COVID-19. Viruses require a host cell to
reproduce, thus there are significant challenges to developing antiviral drugs. Any attempt to target the virus
inevitably causes death or damage to the host cells, never producing a cure rather suppressing rate of viral
replication by:
 Inactivation of the capsid or envelop proteins, which inhibits viral attachment to the host cell.
 Inhabitation of transcription and translation during viral protein synthesis.
 Inhibition of new viruses being released from host cells.
This inevitably results in rapid development of drug resistance. Antiviral medications are effective at reducing
symptoms and sometimes extending the life of infected individuals. A decreased viral load also reduces the risk of
transmission. However, the specificity of antiviral drugs and the high mutation rate of viruses (RNA viruses- up to 1
million times higher than that of the host) make most drug development options economically non-viable.

Antibiotics (substances produced by microorganisms/chemicals which are specific for bacteria which kill or inhibit
the cells of microbes but do not harm human cells helping to control diseases): are categorised as either bactericidal
(kill bacteria by interfering with the formation of the cell membrane, cell wall or cell contents e.g., penicillin- during
reproduction prior to fission of bacteria (penicillin inhibits the enzymes that cross link weakening the cell wall which
bursts and releases the cytoplasm- don’t kill body cells as they lack a cell wall) or bacteriostatic (inhibit bacterial
growth by interfering with DNA replication and protein synthesis. They do not kill the bacteria and therefore rely on
the immune system to clear the infection e.g., amoxicillin). Both groups have broad-spectrum (antibiotics are
effective against a wide range of bacterial species- can be used when the causative pathogen is suspected of being
bacterial without the actual species being identified) and narrow-spectrum (antibiotic is highly specific and acts only
on a very small number of bacterial species) examples. Antibiotics target cell structures and molecules not found in
humans e.g., the cell wall or prokaryotic ribosomes. They do not affect host cells and therefore have very few side
effects. However, the overuse and misuse of antibiotics has lead to the evolution of ‘superbugs’ bacteria which are
resistant to antibiotics (bacteria treated with antibiotics- variants with the genes that protect them are able to
survive and reproduce- resistance via spontenous mutation- vertical evolution and exchanging genes- horizontal
evolution). E.g., drug-resistant forms staph infections.
 Disadvantages: Data indicates that bacterial resistance to antibiotics is increasing and so the concern about
development of resistance is real and problematic, Resistance in less dangerous strains of bacteria can be
transferred to more aggressive types, previously used antibiotics are no longer effective against some strains
of bacteria (e.g. gonorrhoea), Infections that have been able to be controlled now pose a threat, Pressure on
drug companies to research and develop new drugs - an expensive/time consuming.

 investigate and evaluate environmental management and quarantine methods used to control an epidemic
or pandemic.

Epidemic: Is an outbreak of infectious disease within a defined geographical area that spread at a rate above what is
normally expected.

Pandemic: spread of new disease or a new variant of a disease, across a wider geographical area, often worldwide.

Controlling disease spread during epidemics/pandemics is to prevent contact between infected/non-infected

individuals using environmental management (provision of clean water/food appropriate sanitation/personal
protective equipment/maintain good air quality)/quarantine methods (isolate infected or exposed individuals for the
communicable period, combined with environmental management).

CASE STUDY: COVID 19 (SARS-COV-2)- spread of COVID in Australia was initially prevented through a range of
environmental management/ quarantine methods- (‘pop-up’ testing facilities to test, track and isolate infected
individuals, forced lockdowns, mandatory mask wearing in public spaces has been reduces the spread of exhaled
aerosols up to 80%, and social distancing (combined with mask wearing increases up to 90%) became central to
slowing the spread of the virus until the vaccine rollout- 2021), however flaws in biosecurity ultimately lead to the
significant COVID-19 outbreaks in NSW and Victoria. Highly effective- drop to near zero new cases in Victoria after
lockdowns 1 and 2. Of the nearly 2000 COVID deaths in Australia between 2019 and 2021 the majority were
unvaccinated and the 11.7% who had been double vaccinated all were elderly or had significant health issues. While
individuals can still contract COVID after being vaccinated the risk of becoming seriously ill is reduced significantly
with only 1.9% of intensive care unit patients being double vaccinated. There was a drop in incidence/mortality in
March/August 2020 resulted of forced lookdowns and restrictions limiting people’s mobility. Vaccines and eased
restrictions, there was a high incidence rate that was not mirrored by increased mortality.

Impacts of different stakeholders (lockdowns/movement restrictions on economy): 158 billion losses, mental
health impacts, concerns about civil liberties (do forced lockdowns restrict movement/mandatory vaccinations
infringe on individuals’ rights?) versus the greater good and the burden that unvaccinated individuals will place on
the health care system (hospitalisation). This may prevent vaccinated individual from receiving medical treatment for
other often serious health conditions.

 interpret data relating to the incidence and prevalence of infectious disease in populations, for example:
Mobility of individuals (important consideration when considering risk assessment of disease transmission e.g.,
movement within regions/states/international against incidence/prevalence rates determines what limitations need
to be imposed on a population to reduce transmission) and the portion that are immune or immunised: Prior to
vaccines, incidence/mortality reduction was attributed to force lockdowns/restrictions that limited people’s mobility.
The vaccination rollout commenced in Feb 2021 (end of 2021 national average of individuals who were fully
vaccinated was over 90%). This came with a significant easing of the restrictions that had limited people’s mobility
which increased the incidence of new COVID-19 cases. Limiting mobility reduced the spread of the disease while
vaccinations reduced the number of deaths.

Malaria/Dengue Fever in Southeast Asia: WHO estimates that the global prevalence of new malaria cases was 200-
250 million per annum for the past two decades (overall downward trend in case numbers). Mortality rates with a
fall from 736000 in 2000 to 204000 in 2019. Of the 87 countries where malaria is endemic, nine (Bangladesh,
Bhutan, India, Indonesia, Maldives, Myanmar, Nepal, Sri Lanka and Thailand) are in the south-east Asia region with
cases contributing to approximately 3% of global malaria burden. Between 2000-2019 the annual prevalence in this
region dropped from 23 million to 6.3 million while the incidence dropped from 18.1 cases to 3.9 cases per 1000 of
at-risk population. While decreases in prevalence and incidence of malaria occurred in all 6 WHO region, the drop
was most significant in South East Asia. With 25% of the world’ population in Southeast Asia, the WHO has actively
targeted the region with financial support and a range of national malaria elimination programs.

Mobility:

Incidence: number of new cases of a disease in a population in a specified time period. Used to examine how quickly
a disease is spreading through a population. Governments/health authorities can use this data to make decisions on
number of new cases during a specific time
how best to intervene/reduce transmission. × 100.
¿ population at start of monitering period
Prevalence: total number of disease cases in a population in a given period of time. Determines likely burden
outbreak will cause for health facilities/society. Influenced by incidence, period of illness/infection and morality.
total number of new cases during a specific time
×100
¿ population at start of monitering period
 evaluate historical, culturally diverse and current strategies to predict and control the spread of disease.

Prior to the germ theory, predicting and controlling disease spread was largely dependent on observed correlations
between specific behaviours /environmental conditions and disease outbreaks. In response, practices were
introduced to minimise contact between infected and non-infected people. After germ theory, specific pathogens
and their mode of transmission could be linked to a particular disease improving prediction/disease control.
Historical: lack of scientific knowledge meant cultural values/beliefs influenced more e.g., the bubonic plague which
killed 25+ million people was attributed to the wrath of God punishing sinful behaviour. This view resulted in limited
success predicting/controlling outbreaks.
 Late 14th century: link was made between the plague/movement of symptomatic people. Response:
quarantine was introduced in European ports to reduce transmission of the disease. Ships were required to
remain at anchor for 40 days before crew could leave.
 Mid-1840s, Ignaz Semmelweis: early antiseptic procedures including handwashing prior to performing
medical procedures making the connection between women dying during childbirth from puerperal sepsis, a
bacterial infection of the reproductive tract and doctors delivering babies after performing autopsies on
cadavers. He predicted mandatory handwashing/antiseptic procedures prior to childbirth would reduce
morality rates. Women had a 20% chance of dying during childbirth. After the procedures: less than 2%.
 In 1854, Doctor John Snow mapped the number of cholera (water borne disease) cases in the public water
well. He determined that the cause of the outbreak was a contained water well. His discovery was significant
as it provided the first indication that cholera could be controlled by providing and maintaining clean water
sources. Snows collection and analysis of the data is one of the first recorded examples of an epidemiolocal
study.

Cultural strategies: culture- ideas, customs and behaviours of a group of people. Cultural beliefs can contribute to
the prevention and control of disease spread. e.g., for over 4000 years, Greek, Roman and Chinese cultures
disinfected water by either boiling or charcoal filtration (iron particles attach to dirt/pathogens)- the link had been
made between consumption of dirty water and disease. Some cultural practices can promote spread of infectious
disease e.g., in West African countries burial ceremonies involve direct contact with the deceased individual (Ebola
virus: transmitted through bodily fluids and is highly contagious with a morality rate of 90%). The epidemics were
brought under control through a range of initiatives including improved public health and education campaigns,
contact tracing and the enforcement of safe burials.

Current strategies: the WHO uses satellite imagery and global climate patterns to develop models that can be used
to track and predict the spread of seasonally linked diseases e.g., malaria, and zika virus allowing control measures to
be implemented prior to the outbreak to reduce transmissions. R 0 value is an indicator of how contagious an
infectious disease is determined by the infectious period, contact rate and mode of transmission (number of new
individuals a continuous person will infect in 24 hours). It is used to predict whether an epidemic or pandemic is
spreading and whether control measures are working. The goal is to reduce R0 to less than 1 (declining, 1 is stable).

 investigate the contemporary application of Aboriginal protocols in the development of particular medicines
and biological materials in Australia and how recognition and protection of Indigenous cultural and
intellectual property is important:

Bush medicine: historical/traditional use of native Australian plants for both physical/spiritual healing by Indigenous
Australians for over 50,000 years. Research into bush medicines has discovered active ingredients e.g., anti-canner
and antiviral properties. Pharmaceutical companies seek to patent the active ingredient to ensure long-term
financial benefit from their research. This raises ethical and legal considerations as to who has legitimate ownership
of the intellectual property, given that Indigenous Australians have used the product for thousands of years, albeit
without knowledge of the active ingredient.

Smoke bush in Western Australia: in the 1960s, the Western Australian government awarded a license to the US
National Cancer Institute to screen native Australian plants for compounds with anti-cancer effects. None were
found, but the plants were tested again in the 1980s and smoke bush (Conospermum stoechadis) was found to
contain an active ingredient, conocurovone that could destroy HIV in low concentration. In the 1990s an Australian
pharmaceutical company was awarded an exclusive licence to develop the patent for a conocurovone-based drug to
treat HIV. The projected royalties if successful were estimated at $100 million per year. Indigenous Australian people
were not consulted about the collection and testing of plants from Country and received no financial benefit or
acknowledgement from the project, despite the cultural importance of the plant and their knowledge of its
medicinal properties.
 Kakadu plum: (terminalia ferdinandiana) found in northern Australia. Indigenous people local to the region have
used the fruit of the Kakadu plum for over 40000 years as a source of food and for its natural healing properties to
treat colds, flu and headaches. Extracts were used as an antiseptic balm to treat ailments e.g., rheumatoid arthritis
and fungal and bacterial infections. Kakadu plum as has the highest vitamin C of any fruit and strong antioxidant
properties that support the immune system in fighting infections and prevents scurvy (nutritional disease). Studies
also indicate that the fruit is a high source of gallic and ellagic acid which have been linked to a range of health
benefits, including anti-cancer, anti-inflammatory and antimicrobial effects. Several pharmaceutical and cosmetic
companies have lodged patents to gain exclusive licensing rights to the research and any economic benefit derived
from the fruit. E.g., in 2010 a US company Mary Kay applied to patent the gallic and ellagic acid extracts from the
Kakadu plum. The cosmetic company sought to use these active ingredients for their antioxidant properties and
ability to repair damaged skin and reduce collagen breakdown. In 2021, Mary Kay withdrew the patent application
due to concerns raised by local Indigenous Australian representatives regarding their ongoing access and use of
Kakadu plums. Another factor was tighter government regulations which were introduced in response to a similar
case that occurred with smoke bush in WA.

Indigenous Cultural and Intellectual property (ICIP) laws are now in place to protect against the exploitation of
traditional arts and culture of Aboriginal and Torres Strait Islander peoples creating an appropriate balance between
competing interests. Any financial benefits gained from research into bush medicines must now be shared with nay
Aboriginal or Torres Strait Islander communities.

MODULE 8: Homeostasis
Homeostasis: self-regulating process by which a living organism can maintain internal stability within narrow limits (allows
regulated by for optimal metabolic activity/maintenance of health) while adjusting to changing external/internal
nervous/ conditions. Change via a stimulus from stable state is detected by a receptor (detects changes from steady
endocrine state via eternal (ears)/internal (nerve cells) receptors e.g., thermoreceptor)  receives/transmits an
system. impulse to control centre (sets acceptable upper/lower limits for a variable and decides appropriate
response)  interprets the message  sends a signal to the appropriate effector (carriers out response e.g.,
muscle/glands)  body counteracting these changes from the stable state via negative feedback loop
(senses change/activates a process to negate the change).
Vasocontraction Narrowing/constriction of blood vessels by small muscles.
Vasodilation Widening of blood vessels to allow more blood to flow through them/lower blood pressure
Hypothalamus Control centre for homeostasis, located in the brain. Links endocrine and nervous system
Islets of Langerhans: islands of endocrine cells (alpha and beta) scattered throughout the pancreas (organ of
digestive/endocrine system).
Nervous system sends very fast/precise electrical impulses through nerves, brain, and spinal cord. Coordinates its actions and
sensory information by transmitting signals to and from different parts of its body.
 Negative feedback loops that show homeostasis: temperature, glucose and water.
Thermoregulation: ability of an organism to maintain its body temperature within a certain range independently of
its external environment. This ensures the structural integrity of enzymes that catalyse cellular reactions, which are
only optimal at certain temperature. e.g., wrong temperature could stop ATP production.

Glucose levels: simple sugar. Important energy source in living organisms. Essential requirement to produce
adenosine triphosphate (ATP- molecule that carries energy for most chemical reactions within a cell) during cellular
respiration. Need to a be maintained for long-term health and survival.
 Osmoregulation: active regulation of osmotic pressure (water/salt balance) of body fluids, detected by
osmoreceptors, to maintain homeostasis of water content. An abnormally low or high concentration of sodium in the
blood can lead to health problems e.g., nausea, muscle weakness/confusion, seizures, or even death.
Thermoregulation Glucose regulation Osmoregulation
Increase Response Heat lost via radiation from skin + Liver cells activated to take Binding of ADH to collecting
detected Perspiration secreted thus body up glucose and store as duct of nephrons reduced.
temperature decreases. glycogen. Reabsorption of water
Body cells take up more reduced.
glucose. Blood water levels decrease.
Blood glucose levels
decrease.
Effector Muscles cause vasodilation of blood Insulin-secreting cells of Pituitary gland stimulated to
vessels to increase the flow of heat to pancreas stimulated to produce less ADH
the skin, + Sweat glands activated- release insulin into blood (Antidiuretic hormone).
secrete salt and water follows due to binding with cells allowing for
osmosis (sweat evaporates cooling glucose uptake
skin).
Control Hypothalamus activates cooling Glucoregulatory neurons Hypothalamus activates
centre mechanism. (physiological) activate response mechanism response mechanism.
Receptor Change detected by thermoreceptors Detected by insulin-secreting Change detected by
in hypothalamus. (beta) cells of pancreas. osmoreceptors in
hypothalamus.
Stimulus Body temperature increases e.g., Increase blood glucose (after Increase blood-water: over-
exercise. eating). hydrate.
-1
Normal 35.6-37.8 degrees Celsius 4.0-7.8 mmol L glucose 135-145 mEq L-1 (sodium
levels)
Decrease Stimulus Body temperature increases- cold Decrease in blood glucose- Decreased blood water- lack
detected environment. fasting of water
Receptor Change detected by thermoreceptors Detected by glucagon- Change detected by
in hypothalamus. secreting (alpha) cells of osmoreceptors in
pancreas. hypothalamus.
Control Hypothalamus activates heating Glucoregulatory neurons Hypothalamus activates
centre mechanism activate response response mechanism.
mechanism.
Effector Muscles cause vasoconstriction of the Glucagon-secreting cells of Pituitary gland stimulated to
blood vessels decreasing flow of heat pancreas stimulated to produce more ADH.
to the skin, shivering increases release glucagon into blood.
production of heat by muscles,
“goosebumps,” trap air between the
hairs, Adrenal glands secrete
stimulatory hormones e.g.,
norepinephrine/epinephrine to
increase metabolic rates and hence
heat production.
Response Blood diverted away from skin surface Liver cells break down Blood water levels increase.
to reduce heat loss + Shivering causes glycogen and release glucose Binding of ADH to collecting
increased body temperature. into the blood. duct of nephrons increases.
Blood glucose levels Increased reabsorption of
increase. water.
 investigate the various mechanisms used to maintain their internal environment within tolerance limits
Endotherm: organism that uses energy to regulate its internal body temperature (at a relatively constant level) e.g.,
mammals and birds.
Ectotherm: organism whose regulation of body temperature depends on external temperature e.g., fish, reptiles,
amphibians, invertebrates.
 Behavioural adaptations: patterns of behaviour an animal does usually in response to some type of external stimulus
to survive e.g., regulate their body temperature. Koalas adopt different body postures in trees, depending on the
heat of the day. Hot weather: more of the body is in contact with the tree trunk/large branches which are cooler
than the air, increasing heat loss through the tree. Cooler weather: opposite.
Thermoregulation Function + adaptation: Behavioural adaptation
Hypothermia Keep body heat- Physical postures (basking, rolling into a ball), nest building, grouping strategies
avoidance (huddling- penguins, nest-sharing)
Enhance body heat production- Increased movement/energy intake e.g., through eating more.
Hyperthermia To dissipate body heat- Habitat selection (places with shade/water), physical postures (stretching out
avoidance body), and panting.
Decrease body heat production- Reduced movement/decreased energy intake i.e., less eating.
Structural adaptions: physical features of an organism that assist in maintaining homeostasis e.g., body shape, and
the colour and thickness of fur differ of habitat. Allen’s rule states that there is a trend in the length of limbs and
appendages in relation to the climate. SA:V ratio affects the amount of heat lost to air. The arctic hare: rounded
body, short limbs and ears. Black-tailed jackrabbits live in hotter climates and have thinner bodies and longer limbs
and ears. For antelope jackrabbits: vasodilation of blood vessels in ears: body heat in blood is lost to air.

Physiological adaptations: occur within an organism to regulate and maintain homeostasis. E.g., changes in heart
rate, oxygen uptake and hormone levels. Antidiuretic hormone (ADH) regulates the amount of water in the body. Its
release from the pituitary gland prevents the kidneys from making too much urine (water retention). Marsupials:
spectacled hare wallaby (shelters in spinifex brushes during temperatures over 40 degrees/dry weather. Uses ADH as
an adaption to reduce urine production/retain water). Rothchild’s rock wallaby (Relies on reduced blood flow to the
kidneys and seeks out cool rock shelters allowing regulation of its internal water levels.) both live in arid
environments.

Kangaroos: lick their forearms + their saliva evaporating to help them cool (B). Produce sweat to reduce temperature
or stop to conserve water (P). Forearms are thin with dense networks of surface capillaries that aid heat loss (S).
Produce dry faeces and concentrated urine to help conserve water (P). Females produce milk from teats to help fulfil
nutrient requirements of offspring (P). Seek shade when overheated (B).

Excretion (physiological): (sweating, exhalation or urination), removal of metabolic wastes/excess material (carbon
dioxide, nitrogenous wastes, excess salts/water), assisting in homeostasis. Kidney’s filter nitrogenous wastes (occur
as by-products of protein metabolism, occurring as highly toxic ammonia, needing to be diluted) from blood for
excretion. Some organisms use energy to convert ammonia to urea (excreted by mammals/ amphibians) or uric acid
(birds turn ammonia into a highly concentrated paste), which are less toxic. Converting ammonia to urea requires
less energy than converting ammonia to uric acid (safer for offspring that develop into eggs). However, urea requires
more water to dilute. Ammonia is excreted by aquatic species.

Endocrine system: Messenger system comprising feedback loops of hormones released by glands directly into
circulatory system and target/regulate distant organs and all biological processes e.g., development of brain/nervous
system, metabolism, body sugar. Lasts longer and more general.

Types solubility Chemical structure Mode of action examples

steroid Fat Made from cholesterol Slow onset by long lasting, travel in the blood Testosterone,
soluble attached to a water-soluble carrier protein oestrogen, and
(hydrophobic), freely diffuse across the plasma progesterone
membrane, bind to protein receptors in the
cytoplasm and nucleus to activate gene
transcription.
Peptide: Water Small chains of amino acids Fast acting/transient, travel freely in the blood, Insulin and
soluble can’t move across plasma membrane, bind to oxytocin.
receptors on cell surface to activate signal
transduction and gene transcription.
amine Fat/water Derivatives of the amino acid Share properties with steroid and peptide Adrenaline.
tyrosine (takes the amino acid hormones.
tyrosine and is changed slightly
 into a different chemical).
Hormones: signalling molecules secreted by special groups of cells- endocrine glands, to maintain homeostasis.
Hormones travel in the blood and in the fluid between cells. The chemical structure of a hormone determines its
solubility, the way it travels through the body and how it interacts with cells. Each type of hormone affects cells at
different distances and their effects can last for varying periods of time. Some hormones bind to a specific receptor
on many different types of cells, while others only bind to a receptor on specific cells.
Forms of Signals to the same cell. Signals to target cells Signals to cells at distant sites in
hormone the body.
signalling
Description Localised effect, cell releases a Communicating with target cells nearby Slow onset but long-lasting
hormone that is recognised by in neighbouring tissue. Causes a quick effects, produced by cells in
itself, occurs during early response last a short time, hormone is endocrine glands.
development/ infections. Release quickly degraded.
hormones to activate themselves.
Example T-lymphocytes release a hormone Blood clotting. When a blood vessel is Menstrual cycle.
in response to a viral infection, damaged, broken endothelial cells Luteinising/follicle-stimulating
which stimulates the production of release von Willebrand factor which hormone are produced in the
more lymphocytes to kill infected stimulus the production of platelets. pituitary gland and target the
cells. Platelets clot the blood/‘patch up’ the ovary to produce and release
wound. mature eggs.
Hormones in plants are produced in different plant parts e.g., stem tip, buds or root tips. They travel through the
phloem and xylem and pass between cells through plasmodesmata.
Hormone Function
Auxins Control primary elongation of stems and inhibit the lateral growth of branches. Control the growth of stems
toward light (phototropism).
Cytokinin Produced in the tips of roots and travel upward through the xylem. Promotes cell division in growth areas.
Balance between auxins and cytokinin’s determines whether the plant produces roots or shoots.
Gibberellin Trigger seed germination and growth of the stem region between internodes (places from which leaves grow).
s
Ethylene Gas produced by plants that stimulates ripening of fruit, loss of leaves and flower death.
Abscisic Synthesised in chloroplasts of leaves- signal of dehydration. Regulates water loss by controlling the opening and
acid closing of stomata.
Neutral pathways: vertebrate nervous system has two main parts: the central nervous system (CNS- brain
(processing centre of the body made up of the cerebrum (performs higher functions e.g., vision hearing, speech,
emotions and learning), cerebellum (coordinates muscle movement, maintains balance and posture) and brainstem
(connections the cerebrum and cerebellum to spinal cord and performs many automatic functions e.g.,
breathing))/spinal cord(extension of brain that carriers electrical/chemical signals between the brain and PNS)) and
the peripheral nervous system (PNS).

PNS: consists of all the nerves that are not part of the CNS, that branch out of the organs, glands and muscles,
divided into the somatic and autonomic nervous systems, based on the parts of the body and the responses they
control. Some actions (breathing) are done without thinking (autonomic  divides into sympathetic- rapid,
involuntary response to danger known, parasympathetic- rest and digest conditions e.g., digestion/heart rate, and
enteric- mesh-like system of nerves in the gut that coordinate digestion). Others are voluntarily. (somatic)

Neuron: specialised type of cell that has dendrites (neuron receives a signal from another neuron), an axon (where a
neuron sends a signal to a neighbouring neuron) and a cell body (soma where the cell nucleus is located).
Transcription and translation occur here, and proteins are transported for use in dendrites and axons. Multiple axons
bundle together to form a fibre and fibres group together to form a nerve. Signals travel through neurons as an
action potential. Neighbouring neurons are separated by a small gap- synapse. When an action potential reaches the
end of a neuron, it triggers the release of neurotransmitters which travel across the synapse, and bind to receptors
on the next neuron and the message continues along the nerve.
Cnidarian (hydra) Echinoderm (sea star) Planarian (flatworm) Arthropod (bee) Mollusc (octopus)
Lack of true brain. A nerve ring in the Small brain. Small brain Most complex of the
Have a nerve ‘net’ of middle. Two nerve cords. Ventral nerve cord invertebrates. Neurons
nerve cells dispersed Five radial nerves Simple peripheral Ganglia (clusters of organised into
across the body. extended outward nervous system. connected neurons specialised lobes. Eyes
along the arms. Eye spots detect light along nerve cord) have a similar structure
to human eyes.
Nerves are classified as afferent (made up of sensory neurons. Receive an input from the environment e.g., light and
transmit it to the CNS) or efferent (consist of motor neurons that transmit signals in the opposite direction from the
CNS to organs/muscles to initiate an action) based on the direction of the information flow. There nervous system of
invertebrates varies in its structure and complexity, and do not have a centralised nervous system (nerves
throughout the body can control actions independently of the brain).

Neutral system: control centre in negative feedback loops that maintain homeostasis. A change detected by a
receptor is transmitted as an electrochemical signal along nerves to a brain, which results in a signal that is
transmitted back along the nerves to cause a response.

Water balance in plants: plants need water for photosynthesis, respiration and the transport of nutrients and
hormones. Water is drawn upwards into the plant through the xylem by root pressure and capillary action. The
passage of water from the roots to the organs and eventual evaporation from the surface of leaves, is the
transpiration stream. Stomata (openings/pores on the underside of the leaf; each pore is surrounded by a guard cell
which changes size of the pore by expanding/contracting depending on the time of day/environmental conditions)
play a critical role in transpiration and water balanced in plants. Functions: gas exchange and regulation of water
movement by transpiration. Plants need to balance the intake of CO2, needed for photosynthesis and growth, with
the loss of water by transpiration. Pore size is regulated by the active transport of potassium ions and osmosis, which
changes the turgor of guard cells and the size of the pore opening.

Physiological adaptation: Stomata open during the day when photosynthesis occurs and close at night to reduce
water loss. When water is scarce or salinity is high, the hormone abscisic acid binds to proteins in guard cells, which
results in shrinkage of the guard cells and closure of the pore. This disrupts photosynthesis and growth but will only
change when stress signal is reduced.

Structural adaptions: to minimise water stress. plants in arid climates (e.g., cacti) have a reduced number of
stomata, leaves with a waxy (hydrophobic) surface and a reduced surface area, to minimise water loss via
transpiration. Succulent plants can store water in their leaves and stems, while white mangroves (Laguncularia
racemose) secrete excess salt through glands near the tip of each leaf stalk.

Causes and Effects: Do non-infectious diseases cause more deaths than infectious diseases?

Non-infectious diseases: are caused by interactions between genes/environment (not contagious) e.g., genetic
mutations. In higher income countries they are becoming more common because of unhealthy diets, more
sedentary lifestyles and longer lifespans.
 Causes/effects of non-infectious diseases: genetic/nutritional diseases, diseases caused by environmental
exposure, cancer
Genetic diseases: caused by germline/somatic mutations AND mutations in mitochondria.
 Cystic fibrosis: autosomal recessive disease caused by germ-line mutations in the cystic fibrosis
transmembrane conductance regulator (CFTR) gene, which encodes a protein that maintains salt and water
levels in the body. Caused by: deletion of a single amino acid (phenylalanine at position 508 (F508del)). The
gene is transcribed but the polypeptide doesn’t fold correctly, and it is degraded. Causes: accumulation of
thick mucus in lungs, persistent coughing/difficulty breathing. Life expectancy: 40-50 years.
 Mitochondrial diseases (inherited by the mother): A cell contains many mitochondria, so there will be a
mixture of normal/mutant genomes in any one cell. Offspring only inherit mitochondria and any mutations
from the mother. Generally cause muscular/ neurological problems, because these cells need high amounts
of energy (MELAS syndrome). Severity depends proportion mutated.
Cancer: disease caused by the uncontrolled growth of abnormal somatic cells. This results in the formation of a
tumour or in the case of blood cancers, the accumulation of abnormal cells in the circulatory system.

Tumours can be benign (localised/will not cause long-term health problems and can be surgically removed) or
malignant (cancer cells invade nearby tissues and spread to other parts of the body through the circulatory system-
metastasis). Although a primary metastatic tumour can be removed by surgery, the metastatic cancer cells settle at
distant sites in the body, where they form secondary tumours, causing organ failure/death. Cancer can begin in
almost any cell type. Caused by mutations in genes that play an important role in regulating normal cell division and
DNA repair- tumour suppressors (slow down cell division, repair errors in DNA or activate protein signalling proteins,
signally proteins and transcription factors that promote cell division- Called oncogenes in mutated form) and proto-
oncogenes.

Most cancers (90-95%) are caused by mutations in somatic cells (sporadic cancer). 5-10% are hereditary cancer
caused by germ-line mutations in tumour suppressor genes. E.g., someone inherits a mutant MLH1 gene will be
diagnosed with Lynch syndrome and will be at an increased risk of bowel cancer. BRCA1 mutation (breast cancer) is
hereditary.

Melanoma: cells in the skin divide uncontrollably due to changes in the DNA of genes that control cell division.
Caused by exposure to UV radiation (sun/other). When left untreated spreads to deeper layers within the skill.
Symptoms: fatigue, lump or thickening of skin, weight changes, skin changes etc. Treatments: surgery to remove
melanoma/affected lymph nodes. Chemotherapy: using drugs to stop/slow cancer cells in the process of
dividing/replicating. Radiation therapy: high power beams to kill melanoma.

Diseases caused by environmental exposure: e.g., toxic substances in contaminated food or water, inhalation of
chemicals, radiation exposure. Smoking and lung (two sponge-like organs in the chest that deliver oxygen to the
blood and remove C02) cancer: Lung cancers normally start in the cells that line the bronchi, bronchioles and alveoli.
Smoking tobacco causes 85% of lung cancers (link demonstrated in epidemiological studies in the 1940s). Animal
experiments in the 1950s showed that mice developed cancer when the tar that forms from smoke inhalation was
injected into their bodies. 1960s: discovered chemicals in cigarettes bind to and mutate DNA. Cause: There are 7000
chemicals in cigarettes and 70 of these are carcinogens e.g., benzo(a)pyrene (BP). It is produced when tobacco is
burned and inhaled into the lungs. When it enters the body, enzymes metabolise BP into a compound that binds to
guanine in DNA. This causes DNA to bend, resulting in G-to-T transversions  causes uncontrolled cell division in the
lungs that metastasises. Decreases in mortality could have been due to the ‘Quit for life’ educational program, ban of
smoking in public places, health campaigns to assit people to stop smoking and plain packaging laws.

Diseases caused by autoimmunity: immune system recognises cells of the body as ‘non-self’, attacking them and
causing damage.

Type 1 diabetes: caused by the body’s inability to produce insulin to regulate the level of glucose (carbohydrates in
food are broken down into glucose) in the bloodstream. Glucose triggers the release of insulin from beta cells in the
islets of Langerhans in the pancreas. Insulin binds to a receptor on the surface of cells, to activate a protein called
GLUT4, which moves to the plasma membrane and shuttles glucose into the cell.

The amount of insulin secreted by beta cells is regulated by glucose levels, insulin increases after a meal when
glucose levels are high and declines after glucose leaves the bloodstream. Caused by the immune system attacking
and destroying beta cells. Pancreas is unable to produce insulin.

Effects: kidney damage (diabetic nephropathy) and loss of vision (diabetic retinopathy), which occur because of
damage to and narrowing of the capillaries in the kidneys and eyes. Symptoms: poor blood circulation and nerve
damage in the legs and feet (diabetic neuropathy). Increased risk of cardiovascular disease, stroke and sexual
impotence. Type 1 diabetes can be treated with insulin injections.

Nutritional diseases: caused by deficiencies in the diet, absorption problems, overnutrition or eating disorders such
as obesity. Obesity and type 2 diabetes: excessive accumulation of fat (having a BMI over 30 is obese + having a
large waist circumference). Caused by: consumption of more calories than are burned by the body. More common
because of increased consumption of processed food, drinks high in sugar and sedentary lifestyles. Due to increasing
rates of obesity in younger people, more children, teenagers and young adults are being diagnosed with type 2
 diabetes (90-95% of all diabetes). People with the disorder produce insulin but the body does not use it effectively,
so glucose does not enter the cells, resulting in the accumulation of glucose. The body may eventually stop
producing insulin. No cure but symptoms can be managed via lifestyle choices, drugs and/or insulin therapy. Obesity:
more common in developed countries- easier access to processed foods/sedentary lives.

 collect and represent data to show the incidence, prevalence, and mortality rates of non-infectious diseases:
Incidence: number of new cases of a disease in a population in a specified time period (allows comparison of data
sets between populations).
Prevalence: total number of disease cases in a population at a given time, regardless of when they first developed
(proportion, percentage or no. of cases per 10,000).
Mortality rate: number of deaths in a population in a specified time period. Useful to access the general health of a
population.

 analyse patterns of non-infectious diseases in populations, including their incidence and prevalence:
Step 1: Read the title. E.g., see if it has incidence or prevalence data. (New cases/rate for incidence v. a percentage
for prevalence). Read scale.
Step 2: Scan the map to identify any trends e.g., increasing/decreasing trends.
Step 3: Relate this to your knowledge e.g., Increased incidence of breast cancer (caused by mutations in tumour
suppressor genes/oncogenes) in Australian women, but a slow decline in the mortality rate. Breast Screen Australia
tries to reduce illness/death from breast cancer. Women aged over 40 can get a free mammogram every two years,
and women aged 50-74 are actively invited to get a mammogram. The increased testing/better technology have
means that breast cancer is detected more often, but earlier  treated successfully  lower mortality.
 investigate the treatment/management, and possible future directions for further research, of a non-
infectious disease.
TYPE 2 DIABETES: Early diagnosis is essential to prevent long-term health complications. Managed with simple
lifestyle changes: e.g., healthy diet low in processed food, regular exercise, and fewer sedentary periods.
Treatment/management plans: medications, insulin therapy or weight-loss surgery (if blood glucose levels cannot
be managed through diet and exercise. Each drug works by controlling either the level of blood glucose or insulin in
the body). People with type 2 diabetes need to regularly monitor their blood glucose levels with a blood glucose
meter: measures the concentration of glucose in blood, especially before and after a meal or exercise.
Drug How? Side effects
Metformin Lowers glucose production in the liver. Makes body more sensitive to Nausea, diarrhoea, abdominal pain
insulin, so it is used more efficiently.
Sulfonylureas Help the body to secrete more insulin Weight gain and low blood sugar
Glinides Stimulate the pancreas to secrete more insulin levels
Insulin Increases the amount of insulin in body Risk of low blood sugar and high
therapy cholesterol
Weight-loss surgery (management) changes shape of digestive system to limit amount of food that can be eaten.
Side effects: reduced uptake of nutrients and osteoporosis. Best way to manage type 2 diabetes continues to be
through lifestyle (reduces the likelihood of medical intervention AND benefits society because it reduces the cost of
treating medical complications caused by the disease). Advancements:
Future direction Description
Artificial pancreas digital device behaving like a pancreas by releasing insulin into the body in response to changes in blood
glucose levels.
Islet cell Healthy islet cells which contain beta cells that produce insulin, may be transplanted into pancreas of
transplantation people with the disease.
New drug May be more drugs available in the future or personalised medicine.
development
Genetic testing Whole-genome sequencing and GWAS studies may identify SNPs or alleles that increase the risk of type 2
diabetes. Prevention strategies could start earlier in people carrying these genetic variants.
 evaluate the method used in an example of an epidemiological study are descriptive or analytical.
Descriptive study: uses exiting data to understand patterns that can be attributed to a disease or event. Takes a
‘snapshot’ of the proportion of people with a disease or an outcome at a point in time.
Analytical studies: observational (establish the cause of a non-infectious disease by analysing the association
between an exposure and an outcome in a population. Main types of observational study: cohort studies and case-
control studies) and experimental.

Cohort study (prospective- follows a large group of people over a period of time and measures the frequency of
disease in exposed and non-exposed individuals). Begins with the recruitment of a large group of people who do not
have a disease and are representative of the population. Each person is interviewed at the beginning of the study to
gather data and are followed over time with regular interviews being conducted every few years, to gather
disease
( )
exposure
information from their lifestyle. Once data is gathered a relative risk , is calculated to indicate the
disease
( )
no exposure
likelihood that a particular exposure increases the risk of the non-infectious disease.
Framingham Heart Study: by the United States Public Health Service in 1948 to investigate risk factors for
cardiovascular disease. Studied 5,209 people between ages of 30-62 without CVD (originally people didn’t want to
volunteer). Renewed (2019) for an additional six years and $38 million dollars from the National Heart, Lung, and
Blood Institute (NHLBI). Responsible for numerous research breakthrough e.g., smoking’s contribution to heart
disease risk (1960) AND the benefit of physical activity and obesity increasing heart disease risk (1967).
 Strengths: Data should be collected at regular intervals to get an accurate measurement. Study should follow
for enough time for the disease to be detected. Attempts to avoid bias as people are representative of the
population as a whole and is prospective.
 Limitations: large numbers of people were required. Study design may not be suitable if they were
investigating a rare disease. Took a long time and expensive. Difficult to get follow-up data for some patients
who moved.

Case-control study (retrospective- disease status of individuals in a population is known at the start o and
researchers ‘work backwards; to measure the frequency and amount of exposure in people with (cases) and without
the disease (controls)). Begins by identifying cases and controls who are similar to each other (minimises other
factors that might be associated with the outcome (confounding variables)). Gather information using interviews or
surveys. Odds ratio: calculated from the data to determine whether there is a significant association between an
exposure and a disease. An odds ratio greater than 1 is evidence that the exposure causes the disease.

1950 Doll and Hill study: After World War 1 there was a rapid increase in lung cancer, appearing to correlate with an
increase in tobacco consumption. Identified and interview patients from 20 London hospitals. Interviews were
conducted twice many months apart to confirm responses. Took two years. About 2000 cancer cases were recruited
to the study. Note: separate analysis distinguished between someone who had smoked at any time in their life,
smoked a pack a day or had quit at some point in their life teasing apart the effects of the amount and time of
exposure. An odds ratio of 14 was calculated concluding that tobacco smoking was a significant risk factor for lung
cancer.
 Well suited to investigating rare outcomes or slow-developing disease. Relatively inexpensive because it was
quick to conduct and required fewer subjects needed. Cases were matched as closely as possible to controls
to reduce bias. Questionnaire was well planned and could distinguish between different types of smokers.
 Information on exposure and past history was primarily based on interview and may have been subject to
recall bias (difficult or impossible to validate information). Recruiting the control group from a hospital could
introduce other confounding variables such as other health issues. Participants with lung cancer may provide
more detailed or more accurate information than those without it because they are motivated by having
lung cancer and want to understand why.
 evaluate, using examples, the benefits of engaging in an epidemiological study:
Epidemiology: field of research in which large populations of people are studied to provide insights into patterns,
risk factors and exposures associated with diseases/events and to determine the presence/absence of conditions).
Data is collected/compared between 2 groups of people, one with the one without the disease, treatment, or
exposure. Statistical methods are then used to determine whether there is a statistically significant relationship.
Conclusions are used to inform public health programs to control, prevent and treat diseases. Epidemiological
 reports require data accuracy/validation showing the data is consistent and meaningful and needs to provide a
correlation.
 Down syndrome (trisomy 21): genetic disease that is caused by the presence of three copies of chromosome
21 showed that there is a correlation between the age of the mother and the incidence of the disease, e.g., a
35 year old woman has a 1 in 2350 chance whereas a 45 year old woman is 1 in 30. All pregnant women over
the age 35 or in an identified risk category are offered prenatal testing (amniocentesis: used to detect birth
defects/genetic diseases e.g., down syndrome providing time for decisions to be made).
 Cardiovascular disease: Education and public campaigns that make people aware of the risk factors (diet,
physical activity, alcohol, smoking) provides information that can motivate people to change their lifestyle to
reduce their chances.
Limitation: data often gives a statistical probability of getting the disease for a particular population which causes
some people to ignore the data and some people to need counselling when given their chances of developing a
particular disease.

Benefits: provides individual people with the information to reduce risk factors and for society to bring in legislation,
codes of practice and public health campaigns that will reduce the incidence, prevalence and mortality rate due to
non-infectious disease. Improves our knowledge of the causes of non-infectious diseases and helps to develop
treatment/management methods.
Study Benefits/strengths Limitation
type
Case Individual satisfaction from contributing to knowledge Individuals are unlikely to benefit directly from
control: about health for future generations/benefit other participation.
people. Society benefits from the addition of knowledge Retrospective nature can make data more subject to
about exposure and risk factors and their contribution bias from recall of exposures/lifestyle choices. Needs
to disease. to be a suitable matching of cases with control
subjects
Cohort: Individual satisfaction from contributing to knowledge Individuals are unlikely to benefit directly from
about health for future generations. Society benefits participation.
from prospective measurement of different Large cohort studies can be expensive/timely with
exposures/correlating these with disease. many years of follow-up required.
Prevention: How can non-infectious diseases be prevented?
 Use secondary sources to evaluate the effectiveness of current disease-prevention methods (stop diseases
from developing).

Educational programs and campaigns (encourage lifestyle modification): SunSmart program: skin cancer
(melanoma) is the most common cancer in Australia- changes in behaviour to reduce our exposure to the sun also
make it one of the most preventable. Over the past 40 years, the SunSmart program improved people’s awareness
of the link between skin cancer and sun exposure through television advertisements (e.g., Slip! Slop! Slap! Seek!
Slide!) and a free app that provides daily information about UV light levels. One of Australia’s most successful health
education programs. Estimates that it prevented more than 43,000 skin cancers and 14000 skin cancer deaths and
saved the public healthcare system $92 million over its first two decades. $2.22 return for every dollar spent.

Genetic engineering: gene therapy can be used to treat or prevent non-infectious diseases. Replaces a defective
gene with a functioning copy of the gene via viral vectors or CRISPR-Cas9. Gene therapy was approved for use in
Australia (2021) to treat a type of retinal dystrophy that is caused by an autosomal recessive mutation in the RPE65
gene. RPE65 is normally expressed in the retinal cells in the eye that detect light, but mutations cause blindness at a
young age. Gene therapy restores vision by introducing a functioning copy of RPE65 into the retinal cells using a viral
vector (cloned in viral vector which infects cells in the retina inserting a functioning copy of the gene, improves
photoreceptors/vision).

In 2021, CRISPR-Cas9 was used in the USA for the first time in an adult to treat sickle cell disease by editing genes
involved in globin expression. Future: CRISPR-Cas9 may be used to correct an inherited mutation in an embryo e.g.,
F508del mutation in the CFTR gene that causes cystic fibrosis. If this is done in a one-cell embryo, all cells in the body
will have corrected copies of the gene (true disease prevention).
Mitochondrial transfer: technique that can prevent non-infectious diseases caused by
mutations in mitochondrial genes. MELAS syndrome: caused by mutations in the MT-TL1
gene, which affects the nervous system and muscles. A child born using mitochondrial
transfer will have genomes from three parents: nuclear DNA from father’s sperm, the
nuclear DNA from mother’s egg and the mitochondrial genome from the donor egg. All
forms of genetic engineering are expensive and only prevent disease in a small number of
people- inaccessible. Process: Egg containing mitochondria with mutation, nuclear DNA is
removed and transferred into donor egg with healthy mitochondria, donors nuclear DNA is removed. Institute for
Clinical and Economic Review suggests average cost of a gene therapy is between $1-2 million per dose.

Population screening: National Bowel Cancer Screening Program- relatively cheap medical tests of at-risk members
of the community to detect diseases at an early and treatable stage. Aims to reduce the number of bowel cancer
deaths by detecting it at an early stage with faecal occult blood tests. Incidence of bowel cancer increase after the
age of 40 years and the tests are free to Australians aged 50-74 years. Bowel cancer begins as a slow-growing benign
polyp that releases small amounts of blood, which mixes with faeces. Can be tested for with a free collection kit. If
blood is detected, the person may have a colonoscopy, and the polyp can be removed before it turns into cancer.
2017 study: Cancer Council Australia screening for bowel cancer can reduce deaths from the disease by 15-25%.

Technologies and Disorders: explain a range of causes of disorders by investigating the structures and functions of
the relevant organs.
Hearing loss: Sound is produced when an object vibrates, creating a longitudinal wave. The wave is propagated by
vibrating particles that move back and forth in the same direction as the movement of the wave. The vibration is
detected by specialised structures in the ear, converted into an electrical signal and interpreted as sound by the
brain. Wavelength: distance between two consecutive compressions or rarefactions. Amplitude is the distance
between the particles (measured in decibels, higher amplitude = louder, closer particles = higher the amplitude).
Frequency: number of compressions or rarefactions that pass a point in a fixed amount of time (determines pitch-
Hertz. Auditory field of humans is 20-20000 Hz).

EAR: hearing enables us to communicate and navigate in response to audible stimuli (help us keep our balance). The
ear is divided into the outer ear (captures sound waves), middle ear (transfers vibrations to inner ear), and inner ear
(converts vibrations into nerve impulses to be interpreted by the brain). Sound enters the ear passing through the
external auditory canal to the tympanic membrane which vibrates in response to the sound. The membrane has 3
bones, called the auditory ossicles, the malleus, the incus and the stapes. This is held in place in the middle ear.

The cochlea is a hollow, fluid filled, coiled structure in the inner ear that contains the corti (organ of hearing). When
the oval window is compressed by the ossicles, waves travel through the cochlea fluid, causing the basilar membrane
which consists of support cells and mechanosensory cells (hair cells) to flex. The hair bundles (cilia on the tops of the
hair cells) vibrate and press against the tectorial membrane, resulting in the release of neurotransmitters. This
auditory signal travels via the vestibulocochlear nerve to the brain.

Causes of hearing loss: Can be mild or profound and is categorised based on which region of the ear is affected.
Conductive hearing loss (usually temporary): sound waves cannot reach the inner ear, caused by defects in the
outer or middle ear (blockage from ear wax/benign tumours, infections in the middle and outer ear, or a perforated
eardrum).

Sensorineural hearing loss (often permanent): occurs because of defects/damage of the cochlea in the inner ear or
the auditory nerve and is often permanent. Possible causes include:
 Congenital (absent at birth or caused by events such as exposure to loud sounds, diseases and getting old)
and acquired hearing loss from viral infections (e.g., German measles and chickenpox).
 Side effects from toxic drugs (e.g., cisplatin used to treat cancer and quinine for malaria)
 Syndromes e.g., Treacher Collins syndrome and germ-line mutations. Autosomal recessive mutations in the
GJB2. Loss of expression affects hair cells of the cochlea.
 Age-related hearing loss (or presbycusis) which is the gradual loss of
hearing in both ears.
 Physical trauma such as a fractured skull or loud noise.
 Other causes: small bones in middle ear are damaged/fused together so do not carry sound vibrations to the cochlea
very well, hair cell receptors in the cochlea are damaged and have lost their sensitivity.

Visual disorder: eyes receive/convert light into nerve impulses that are interpreted by the brain as images of objects
in the environment. The human eye perceives the visible light (the amplitude determines the brightness of the light,
while the wavelength determines the colour (red = longer wavelength)). Invertebrates and reptiles can detect UV
and infrared radiation. Reflection: light “bounces off” a surface. Refraction: light changes direction (angle dependent
on material) as it passes from one medium to another.

EYE: light enters the eye through the pupil. Contraction and retraction of muscles in the iris control the amount of
light that enters. Light then passes through the cornea, lens, and fluid-filled eyeball, which refract light to a focal
point on the retina at the back of the eye. The retina (consists of specialised sensory neuron cells-photoreceptors
(TYPES: rod: very sensitive to light but cannot differentiate between wavelengths functioning best in low light AND
cone: contain pigments- rhodopsin’s for colour vision. Rhodopsin’s contain one of the three opsins, sometimes called
red (L-cone), blue (S-cone) and green (M-cone)) which detected colour/light and are localised in the macula)
generates a nerve impulse (electrochemical message from a photoreceptor) that is transmitted through a bipolar
cell, a ganglion cell and then via the optic nerve to brain.
Structure Description Function
Conjunctiva Membrane that lines the sclera and inside the eyelids Protect/lubricates the eye with mucous and tears,
Cornea Transparent membrane made from collagen protein. Barrier protection for eye/refracts light rays passing
through the eye.
Sclera Dense connective tissue around the whole eye. Provides support and maintains the shape of the eyeball.
Choroid Thin layer of tissue that is rich in blood vessels. Provides blood supply to the retina.
Aqueous Humour: Thin, transparent, water-like fluid. Maintains pressure, provides eye nutrition, and refracts
light.
Iris Coloured, muscular ring around the pupil. Controls the amount of light into the eye.
Pupil Black opening at the centre of the iris. Allows entry of light into the eye.
Lens Transparent, biconvex, flexible protein disc. Main refractive structure of the eye that focuses light on
the retina.
Ciliary body Ring of tissue containing the ciliary muscle. Holds the lens in position and changes its thickness.
Vitreous Humour: Transparent gel-like substance between the Maintains the spherical shape of the eye; has some
lens + retina. refractive ability.
Retina Light-sensitive layer of tissue at the back of the eye. Converts light to electrochemical signals.
Macula Pigmented area near the centre of the retina Provides sharp, clear, straight-ahead vision.
Optic nerve Paired nerve that connects the eye to the brain. Transmits nerve impulses from the retina to the brain.
Eye Sets of muscles attached from the eye to bone. Rotates the eyeball within the eye socket of the skull.
muscles
Light enters the eye at different angles depending on the relative distance of objects from. The biconvex shape of the
eye’s lens and its ability to change shape to accurately focus light on the retina (accommodation) enables us to see
objects at different distances. We also have binocular vision (helps with depth perception).

Causes of visual disorders: Refractive errors (most common; occurs when light doesn’t focus properly on the retina;
generally genetic): myopia (short-sightedness- eyeball is too long- concave), hyperopia (far-sightedness- eyeball is
too short- convex) and astigmatism. Presbyopia (refractive error) occurs when our eyes gradually lose the ability to
focus on close-up objects, usually beginning in the early to mid-forties, caused by a hardening of the lens which
becomes less flexible (less able to accommodate light entering the eye).
Visual Cause
disorder
Cataracts Blurry vision resulting from the breakdown of proteins and fibres in the lens (discolouration of the lens).
Glaucoma Group of eye diseases seen in older people, results from progressive damage to the optic nerve caused by
increased pressure in the eye.
Macular Degeneration: Deterioration of cells in the retina, resulting in loss of central vision.
Retinopathy spotty/blurry/loss of vision caused by damage to retina from abnormally growing/damaged blood vessels.
Symptom of type 1/2 diabetes.
 Loss of kidney function: The kidneys (in the urinary system) are two bean-shape organs, located below the rib cage
on either side of the spine which filter the blood to remove nitrogenous wastes, excess fluids, and salts. They are
filtered by nephrons to form urine which can be excreted from the body. Helps to balance the level of water, salt
ions and minerals in the body and produce hormones (e.g., renin, erythropoietin, and calcitriol) that regulate blood
pressure, red blood cell production and the absorption of calcium in the intestine.

Blood enters each kidney via afferent arteriole, which branches into capillaries, which enter millions of nephrons- act
as filtering and reabsorption units. Each nephron consists of a filtering structure- glomerulus: cluster of narrow
capillaries that allows the blood to enter the Bowmans capsule (filters blood based on size- only small particles e.g.,
water/dissolved minerals can enter passively), as the fluid filters it travels along the tubule. Proximal convoluted
tubule (secretion: active transport of unwanted substances e.g., drugs from the blood and reabsorption: passive
return of water, ions and glucose from filtrate to blood), loop of Henle (main site of water reabsorption into the
blood, impermeable to ions) and distal convoluted tubule (further reabsorption of ions regulated by ADH). Any
substances that do not get reabsorbed passes through collecting duct into ureter and is released from the body
through the urethra via excretion. Urine consists of 95% water, 5% nitrogenous waste and ions e.g., sodium,
potassium, hydrogen, and calcium.

Causes of kidney disorders: disorders are acute (kidneys suddenly lose their ability to filter waste which accumulates
and changes the chemistry of the blood) or chronic failure (gradual loss of function over many years. It results in the
accumulation of excess fluid, electrolytes and wastes in the blood). Causes of acute kidney failure:
 Reduced blood flow to the kidneys- results from blood clots and high cholesterol (which block blood vessels
leading to the kidney), severe dehydration, liver failure, infections, toxins, and blood pressure medication.
 Urine blockages- ureters can get blocked with kidney stones (hard mineral deposits that build up in the
kidney) or tumours which stop the flow of urine out of the body.
Kidney failure requires ongoing treatment using renal dialysis/by having a kidney transplant without these
treatments’ kidney failure is deadly.
Kidney disorder Cause of disorder
Diabetic A symptom of diabetes. Abnormal filtering from the glomerulus into Bowman's capsule results in blood
nephropathy cells and large proteins leaking into the urine.
Hypertension (high blood pressure) The walls of thin blood vessels (arterioles) in the kidney thicken and reduce blood
flow to the kidney.
Glomerulonephritis Inflammation of the glomeruli. This usually occurs after a bacterial infection and is the most common
cause of kidney failure.
Interstitial Inflammation of the kidney's tubules and surrounding structures
nephritis
Polycystic kidney An inherited genetic disorder that causes cysts to grow in the kidney. The most common type is caused by
disease autosomal dominant mutations in the PDK genes. There is also a rarer autosomal recessive form caused
by mutations in PKHD1.
Vesico-ureteral An abnormal ureter causes urine to flow back from the bladder into the ureters or kidneys. It can cause
reflux infections and scarring.
Pyelonephritis Recurring kidney infections caused by bacteria or viruses
 investigate technologies that are used to assist with the effects of a disorder.

Hearing loss- Cochlear implants: used by people with profound sensorineural loss when hearing aids are not
beneficial. Cochlear implants bypass the outer and middle ear and deliver the sound or vibrations directly to the
auditory nerve (implanted into the skull with one or more electrodes connecting to the auditory nerve). Normal
hearing is not restored. A person needs therapy and practice to learn how to hear. The implant provides an
increased awareness of sounds in the environment and improves the ability to understand through lip reading.
Sounds are picked up by a microphone and electronically analysed by a processor unit. The processor converts the
sounds into a set of electrical signals. These signals are transmitted as radio waves through the flesh to the cochlear
implant which was placed in the skull by surgery. Procedure is expensive, those born deaf and given an implant
rarely learn to interpret the new sensations and it might take years of training or therapy. If there is damage to the
auditory nerve as well as a cochlea it doesn’t help. Doesn’t restore normal hearing. Can allow someone to perceive
sound which enhances their ability to communicate/respond.
Bone conduction implants: used to treat conductive or mixed hearing loss or single-sided deafness. System consists
of an external sound processor and an implant.

Hearing aids: amplifies sounds to improve hearing in people with sensorineural hearing loss. Small, removable
electronic devices that consist of a microphone (detects sound waves and converts them to electrical signals which
are sent to an amplifier), an amplifier (increases the power of the signals and then sends them to the ear through a
speaker) and a speaker. Improve hearing/speech comprehension. It picks up sound and sends amplified sounds
down the person’s ear canal. Can’t help a patient who is profoundly deaf (Only work if there are some surviving hair
cells in the cochlea).

Visual disorders: Glasses, contact lenses and laser surgery: Refractive errors can be treated with glasses (relatively
inexpensive technology that can restore normal vision to a person with myopia or hyperopia) or contact lenses (soft,
flexible lenses which are worn in contact with the eyes conjunctiva).
 MYOPIA: corrected by concave lenses which refracts the light rays, so they are diverging as they enter the
eye making the vision clear/focused.
 HYPEROPIA: Corrected by glasses containing convex lenses, compensating for the lack of refractive power of
the eye’s lens. The extra lens bends the light rays together, which brings the focus position forward and onto
the retina.

People can also have the shape of the cornea permanently changed with corrective laser surgery (corrects the angle
of the refraction of light so that it focuses correctly on the retina). An intraocular lens (IOL) is a permeant lens placed
inside the eye. These artificial lenses are made from plastic, and they work in the same way as a natural lens. Using
just a local anaesthetic, Microsurgery is used to remove a cloudy lens, usually caused by a cataract, and implant the
IOL behind the iris. An IOL fits perfectly into the lens capsule and results in correct focus and clear vision (takes 30
minutes and replacement lens cost is very low). The Fred Hollows Foundation have restored the vision of over a
million Cataracts sufferers in Africa, Asia and the Pacific. The bionic eye is a future technology that is currently being
trialled to restore sight in people with severe vision loss caused by degenerative diseases (bypasses the
photoreceptors in the retina). Camera captures image and transmits data to an external body processing unit 
Data processed and sent to implanted system via external wire  Implant receives wireless signals from external
unit and sends them to retinal implant via implant wire  implanted electrode array stimulates retina  electrical
signals sent from retina via visual pathway to vision processing centres in the brain.

LASIK: permanently changes the shape of the cornea. Only takes 15 minutes per eye. A lid speculum will hold the
eyelid open, then a suction ring will be placed on the eye. A microkeratome will then be attached to the suction
device and a corneal flap will be created and lifted to one side. The doctor will then use pulses from a computer-
controlled excimer laser to reshape the cornea by vaporising tiny portions of the interior. The corneal flap will then
be replaced.

Loss of kidney function: Each kidney performs half the kidney function in a body. A single kidney can increase in size
and carry out 75% of the normal function of both kidneys. If a person’s kidney function decreases to about 10-15% of
normal kidney, the only treatments are dialysis or a kidney transplant. Loss could be due to nephron failure (sugar
reacts with proteins to stop proper function).
Dialysis: medical technique that replaces the normal filtering function of the kidneys. Either haemodialysis (filtering
of blood occurs outside the body. Most common type and is ideal for people with reduced kidney function. It is done
in a hospital, a dialysis centre or at home. A session takes about four or five hours and needs to be done three days
per week.) OR peritoneal dialysis (filtering of the blood occurs inside the body. It allows continuous filtration, can be
done at home or at work, and is not as disruptive to a person’s daily activities as haemodialysis. Not suitable for
people with obesity or abdominal scarring- less effective).
 Blood is removed through needle. It's sent across a special filter, which removes harmful substances from
your blood. Then returned.

Kidney transplant: using a donated kidney from a living/decreased person. If a kidney comes from a living donor, the
transplant can be done when the recipient’s kidney is close to failing but before dialysis. People can register as organ
donors. The recipient must take anti-rejection drugs for the rest of their life, to prevent the kidney being attacked by
their immune system.
Kidney stones: treated by breaking them up with stock waves and smaller stones are then passed naturally in the
urine. They can also be surgically removed (nephrolithotomy) through a small incision in the back.

Evaluate the effectiveness of a technology that is used to manage/assist. Kidney (filters 200 L a day)/renal dialysis:
 Benefits: Extends the person’s lifetime, Filters out waste, toxins, and excess water, increases energy levels
and Improves appetite. Improves overall quality of life, works where kidney failure cannot (e.g., when
someone has FSGS which can reoccur in transplants).
 Limitations: It is not a cure- kidney function does not return to normal, need to plan life around dialysis
sessions (disruptive), Invasive: brings a vein to the surface to access the vein easily, Can cause cramps and
changes in blood pressure, Supplements and hormone therapy may be needed to correct deficiencies (e.g.,
vitamin D/hormone erythropoietin), uncomfortable. Recovery time: 2-4h.

Designing experiments: remember a control (with nothing), have another variable e.g., just water. Repeat the
experiment, select appropriate safety equipment including gloves and safety clothing, measuring techniques,
incubation temperature.