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Latvian Science Institute

Advanced Level Biology Notes
BY MR J D MOYO

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FORM 5 - TERM 2
TOPIC 6: INHERITED CHANGE AND EVOLUTION.
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KEY CONCEPT.

--------------------THE NATURE OF A GENE.

OBJECTIVES.

--------------------The gene concept.

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The whole of nature, as has been said, is a conjugation of the verb toeat, in the active and passive.
—William Ralph Inge

INTRODUCTION

Genes are passed from parents to offspring inside the nuclei of gametes.
During sexual reproduction, gametes fuse to produce a zygote, which contains one
set of chromosomes from each parent.
The study of the passage of genes from parent to offspring is called genetics.

GENES AND ALLELES

The two chromosomes in a diploid cell that are similar (e.g. the two chromosome 1s) are
said to be homologous.
They each contain the same genes in the same position, known as the locus of that gene.
This means that there are two copies of each gene in a diploid cell.
Genes often come in different forms.
For example, the gene for a protein that forms a chloride transporter channel in cell surface
membranes, called the CFTR protein, has a normal form and several different mutant
forms.
These different forms of a gene are called alleles.
An allele is one of two or more different forms of a gene that codes for a particular
polypeptide or protein.
Polygenes are two or more different pairs of alleles, with a presumed cumulative effect that
governs such quantitative traits as size, pigmentation, intelligence, among others.
Those contributing to the trait are termed contributing (effective) alleles; those appearing
not to do so are referred to as non-contributing or non-effective alleles.

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Homozygote and heterozygote

An organism that has two identical alleles for a particular gene is a homozygote.
An organism that has two different alleles for a particular gene is a heterozygote.

Dominant and recessive

We can use letters to represent the different alleles of a gene.

For example, we could use F to represent the normal cystic fibrosis allele, and f to
represent a mutant allele.
There are three possible combinations of these alleles in a diploid organism: FF, Ff or ff.
These are the possible genotypes of the organism.
These different genotypes give rise to different phenotypes — the observable
characteristics of the organism.
An organism’s phenotype is its characteristics, often resulting from an interaction between
its genotype and its environment.

A person with the genotype Ff is said to be a carrier for cystic fibrosis, because they have
the cystic fibrosis allele but do not have the condition.
The Ff genotype does not cause cystic fibrosis because the F allele is dominant and the f
allele is recessive.
A dominant allele is one that is expressed (has an effect) in a heterozygous organism.
A recessive allele is one that is only expressed when a dominant allele is not present.
The dominant allele should always be symbolised by a capital letter, and the recessive
allele by a small letter.
The same letter should be used for both (not F and c, for example).
If you are able to choose the symbols that you use in a genetics question, then choose ones
where the capital and small letter are different in shape, to avoid confusion (not C and c, for
example).

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KEY CONCEPT.

MONOHYBRID AND DIHYBRID INHERITANCE.

OBJECTIVES.

Use genetic diagrams to solve problems involving monohybrid and dihybrid inheritance.
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MONOHYBRID INHERITENCE.

This is the inheritance of a single gene.

For example, albinism (the lack of melanin in the skin) is caused by a recessive allele, a.
Imagine that a man with the genotype Aa and a woman with the genotype AA have
children.
In their testes and ovaries, gametes are produced.
In the man, half of his sperm will contain the A allele and half will contain the a allele.
All of the woman’s eggs will contain the A allele.
We can predict the likely genotypes of any children that they have using a genetic diagram.
Genetic diagrams should always be set out like this:

We can therefore predict that there is an equal chance of any child born to them having the
genotype AA or Aa There is no chance they will have a child with albinism.

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If both parents have the genotype Aa:

We can therefore predict that, each time they have a child, there is a 1 in 4 chance that it
will have the genotype aa and have albinism.

Notice:
In the examination, it may be important to show the whole genetic diagram, not just the
Punnett square (the table showing the genotypes of the offspring).
The ‘gametes’ genotype’ line in the genetic diagram shows the different kinds of gametes
the parents can produce.
If there is only one kind of gamete, you only need to write down one kind — there is no
need to write the same one down twice. (If you do that, it will not make any difference to
your final answer, but will make twice as much work in writing it all down.)
The gamete genotypes are shown with a circle drawn around them. This is a principle — if
you do this, the examiner will understand that they represent gametes.
There is often a mark for stating the phenotype produced by each genotype among the
offspring. The easiest and quickest way to do this is to write the phenotypes in the boxes in
the Punnett square.
The genotypes inside the Punnett square show the chances or probabilities of each
genotype being produced. If you have four genotypes, as in the example above, this does
not mean there will be four offspring. It means that, every time an offspring is produced,
there is a 1 in 4 chance it will be AA, a 1 in 4 chance it will be aa and a 2 in 4 (better written
as 1 in 2) chance it will be Aa.
An alternative way of writing ‘a 1 in 4 chance’ is ‘a probability of 0.25’, or ‘a 25%
probability’.
You could also give the final answer in terms of expected ratios. For example, ‘We would
expect the ratio of unaffected offspring to offspring with albinism to be 3:1’.
The chance of any individual child inheriting a particular genotype is unaffected by the
genotype of any previous children. Each time a child is conceived the chances are the same.

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TEST CROSSES

A test cross is a breeding experiment that is carried out to determine the genotype of an
organism that shows the dominant characteristic.
For example, in a species of mammal, the gene for hair colour has two alleles, B and b.
Allele B gives brown fur and allele b gives white fur.

If an animal has brown fur, we do not know if its genotype is BB or Bb.

We can find out by breeding it with an animal with white fur, whose genotype must be bb.
If there are any white offspring, then the unknown animal must have the genotype Bb, as it
must have given a b allele to these offspring.
If there are no white offspring, then the unknown animal probably has the genotype BB.
However, it is still possible that it is Bb and, just by chance, none of its offspring inherited
the b allele from it.

CO-DOMINANCE
In the albinism example, one allele is dominant and the other recessive.
Some alleles, however, are co-dominant.
Each allele has an effect in a heterozygote.
For co-dominant alleles, it is not correct to use a capital and small letter to represent them.
Instead, a capital letter is used to represent the gene, and a superscript to represent the
allele.
For example, in some breeds of cattle there are two alleles for coat colour:
CR is the allele for red coat.
CW is the allele for white coat.

The inheritance of co-dominant alleles is shown using a genetic diagram.

You might like to try showing that two roan cattle would be expected to have offspring with
roan, red and white coats in the ratio 2:1:1.

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F1 and F2 generations
When two organisms that are homozygous for two different alleles of a gene, for example
AA and aa, are crossed, the offspring produced are called the F1 generation.
The F1 are all heterozygous, i.e. Aa.
When two of the F1 generation are crossed, their offspring are called the F2 generation.

MULTIPLE ALLELES

Many genes have more than two alleles. For example, the gene that determines the antigen
on red blood cells, and therefore your blood group, has three alleles IA, IB and IO.
IA and IB are co-dominant.
They are both dominant to IO, which is recessive.

Genetic diagrams involving multiple alleles are constructed in the same way as before.
For example, you could be asked to use a genetic diagram to show how parents with blood
groups A and B could have a child with blood group O.

Begin by working out and then writing down a table of genotypes and phenotypes, which
you can easily refer back to as you work through the problem.
Consider whether you can tell the genotype of any of the individuals in the problem from
their phenotype.
Here, we know that the child with blood group O must have the genotype IOIO.
Work back from there to determine the genotypes of the parents.
In this case, each of them must have had an IO allele to give to this child.
Always show a complete genetic diagram.

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Do not take short cuts, even if you can see the answer straight away, as there will be marks
for showing each of the steps in the diagram.

SEX LINKAGE

In a human cell, there are two sex chromosomes.

A woman has two X chromosomes.
A man has an X chromosome and a Y chromosome.
The X chromosome is longer than the Y chromosome.
Most of the genes on the X chromosome are not present on the Y chromosome.
These are called sex-linked genes.
For example, a gene that determines the production of red-receptive and green receptive
pigments in the retina of the eye is found on the X chromosome.
There is a recessive allele of this gene that results in red-green colour-blindness.
A woman has two copies of this gene, because she has two X chromosomes.
A man has only one copy, because he has only one X chromosome.
If the normal allele is A, and the recessive abnormal allele is a, then these are the possible
genotypes and phenotypes a person may have:

Notice:
Sex-linked genes are shown by writing the symbol for the allele as a superscript above the
symbol for the X chromosome.
There are three possible genotypes for a female, but only two possible genotypes for a
male. For example, you could be asked to predict the chance of a woman who is a carrier
for colour blindness (that is, heterozygous) and a man with normal vision having a colour-
blind child.

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There is therefore a 1 in 4 chance that a child born to this couple will be a colour-blind boy.
There is a 1 in 2 chance of any boy that is born being colour-blind.

Notice:
Always show the X and Y chromosomes when working with sex-linked genes.
A boy cannot inherit a sex-linked gene from his father, because he only gets a Y
chromosome from his father.
His X chromosome (which carries sex-linked genes) comes from his mother.
Another example of sex linkage in humans is haemophilia.
This is caused by a recessive allele of a gene for a blood-clotting factor, carried on the X
chromosome.
In males who have this recessive allele, blood clotting does not take place normally, so
wounds can bleed copiously, and internal bleeding can take place, for example into joints.

DI-HYBRID INHERITENCE

This involves the inheritance of two genes.

For example, a breed of dog may have genes for hair colour and leg length.
Allele A is dominant and gives brown hair. Allele a is recessive and gives black hair.
Allele L is dominant and gives long legs. Allele l is recessive and gives short legs.
As before, always begin by writing down all the possible genotypes and phenotypes.

Notice:
Always write the two alleles of one gene together. Do not mix up alleles of the two different
genes.
Always write the alleles in the same order.
Here, we have decided to write the alleles for hair colour first, followed by the alleles for leg
length.
Do not swap this round part-way through.

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A di-hybrid cross.

A genetic diagram showing a dihybrid cross is set out exactly as for a monohybrid cross.
The only difference is that there will be more different types of gamete.
Each gamete will contain just one allele of each gene.
This genetic diagram shows the offspring we would expect from a cross between two dogs
that are both heterozygous for both genes.

We would therefore expect offspring in the ratio 9 brown hair, long legs : 3 brown hair,
short legs : 3 black hair, long legs : 1 black hair, short legs.

Notice:
Each gamete contains one allele of each gene (one of either A or a, and one of either L or l).
The ratio 9:3:3:1 is typical of a dihybrid cross between two heterozygotes, where the alleles
of both genes show dominance (as opposed to codominance).

AUTOSOMAL LINKAGE

If two genes are on the same chromosome, then their alleles do not assort independently
during meiosis.
The alleles on the same chromosome tend to be inherited together.
This is called autosomal linkage.
For example, imagine that in a species of animal, the gene for eye colour (E/e and the gene
for fur colour (F/f) are on chromosome 3.
A male animal has the genotype EeFf.
In his cells, one of his chromosome 3s carries the E and F alleles, and the other has the e
and f alleles.
Autosomal linkage is the tendency of two characteristics to be inherited together, because
the genes that cause them are on the same (non-sex) chromosome.

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If there was no autosomal linkage, we would expect offspring genotypes in the ratio
1:1:1:1.
However, because the genes are linked together, we find that most of the offspring
resemble their two parents.
Only a small number (perhaps none at all) show different combinations of eye colour and
fur colour.
These few are called recombinants.
…………………………………………………………………
KEY CONCEPT.

-------------------THE CHI-SQUARED TEST.

OBJECTIVES.

-------------------Use the chi squared test to test the significance of the differences between the expected and the observed results.
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STATISTICS IN GENETICS

Genetic diagrams can be used to tell us the probabilities of particular genotypes occurring
in offspring.
However, because these are just probabilities, the actual phenotypic ratios are rarely
exactly as we predicted.
For example, imagine that a plant has genes for flower colour (allele Y for yellow and y for
white flowers) and petal size (P for large petals and p for small petals).
We cross two plants that are heterozygous for both alleles.

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If these alleles are not linked (i.e. the genes are on different chromosomes) we would
expect to get offspring with phenotypes:

The question we need to ask is: are these results close enough to the expected results to
indicate that we are right in thinking that the two genes are not linked?
Or are they so different from the results we expected that they indicate that something
different is happening?
In other words, is the difference between our observed and expected results significant?
We can use statistics to tell us how likely it is that the difference between our observed
results and our expected results is just due to chance, or whether it is so different that we
must have been wrong in our predictions.

NULL HYPOTHESIS AND PROBABILITY LEVEL.

A null hypothesis is a statement that there is no relationship between two variables, or that
the results we have obtained show no significant difference.
A statistics test begins by setting up a null hypothesis.
We then use the statistics test to determine the probability of the null hypothesis being
true.
In this case, our null hypothesis would be:
o The observed results are not significantly different from the expected results.
We then work through a statistics test, which gives us a probability of our null hypothesis
being correct.
In biology, it is conventional to say that:
1. if the probability of the null hypothesis being correct is greater than or equal to 0.05, then
we can accept the null hypothesis.
2. if the probability is less than 0.05 that the null hypothesis is correct, then we must reject it

THE CHI-SQUARED TEST

To test the possibility of our null hypothesis being correct, the most suitable statistical test
for this set of results is the chi-squared test.
This can also be written as χ2 test.
Construct a table similar to the one below. You need one column for each category of your
results.

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Fill in the observed numbers and the expected numbers for each category.
Calculate O − E for each category.
Calculate (O − E)2 for each category.
Calculate (O − E)2 /E for each category.
Add together all of the (O − E)2 /E values, to give you Σ (O −E E)2.

Your table now looks like this:

The number 1.23 is the chi-squared value.

You now need to look this up in a probability table, to find out what it tells us about the
probability of the null hypothesis being correct.
This is a part of a probability table for chi-squared values.

The numbers inside the cells in the table are chi-squared values.
The numbers in the first column are degrees of freedom.
You have to choose the correct row in the table for the number of degrees of freedom in
your data.
In general: degrees of freedom = number of different categories – 1
In this case, there were four categories (the four different phenotypes), so there are 3
degrees of freedom.
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1. Look along the row for 3 degrees of freedom until you find the number closest to the chi-
squared value you have calculated. This was 1.23, and all the numbers in the row are much
bigger than this. The closest is 6.25.
2. Look at the probability associated with this number. It is 0.1. This means that if the chi-
squared value was 6.25, there is a 0.1 probability that the null hypothesis is correct.
3. Remember that, if the probability of the null hypothesis being correct is equal to or greater
than 0.05, you can accept it as being correct. 0.1 is much bigger than 0.05, so you can
definitely accept the null hypothesis as being correct. Indeed, because your value of chi-
squared was actually much smaller than 6.25, we would need to go a long way further left
in the table, which would take us into probabilities even greater than 0.1.
4. We can therefore say that the difference between the observed results and expected results
is not significant.
The differences between them are just due to random chance.

GENE INTERACTIONS

Sometimes, two genes at different loci interact to produce a phenotype.

For example, in mice, two genes affect fur colour:
1. Gene for distribution of melanin in hairs: A produces banding (agouti), a produces a
uniform distribution.
2. Gene for presence of melanin in hairs: B produces melanin, b does not produce melanin.
Clearly, gene A/a can only have an effect if the pigment melanin is present.
If there is no melanin, fur colour is white.

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KEY CONCEPT.

------------NATURAL SELECTION.

OBJECTIVES.

---------Explain how mutations and the environment may affect phenotype.

---------Explain using examples how environmental factors act as forces of natural selection.
---------Explain how natural selection brings about evolution.
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NATURAL SELECTION.

Natural selection is the increased chance of survival and reproduction of organisms with
particular phenotypes, because they are better adapted to their environment than those
with other phenotypes.
In an ecosystem individual organisms within a particular population have a great
reproduction potential.
The population however, remains roughly constant in that community.
This occurs because other individuals may fail to survive or may fail to reproduce.
What determines whether an individual survives and is able to reproduce are the
environmental factors.
The environment factors tend to support the survival of other members compared to
others.
This is referred to as natural selection.
Members that survive and reproduce are said to be selected for, while those that do not
survive or die or later fail to reproduce are said to be selected against.
What determines the selection are the variations that different individuals possesses.
Some variations in characteristics make other members best adapted to survive and those
that survive tend to reproduce, passing their alleles to the next generation.
It is this genetic variation which leads to a change in the phenotype thus overtime some
alleles can be completely lost from a gene pool.
Overtime this produces an evolutionary change as new species which are well adapted tend
to rise.
A good example is that of a British moth during the industrialisation era.
Lightly coloured moth (white) where selected against because of the environment that had
turned darker as a result of soot from industries.
Predators such as birds could easily identify the moth reducing its survival chances while
the dark coloured moth was selected for as they were difficult to identify.
These members tended to survive and reproduce passing on their alleles of dark colour.
When the environment is fairly stable, natural selection is unlikely to bring about change.
If the organisms in a population are already well adapted to their environment, then the
most common alleles in the population will be those that confer an advantage on the
organisms, and it is these alleles that will continue to be passed on to successive
generations.

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This is called stabilising selection.

However, if the environment changes, alleles that were previously advantageous may
become disadvantageous.
For example, in a snowy environment the individuals in a species of mammal may have
white fur that camouflages them against the snow and confers an advantage in escaping
predators.
If the climate changes so that snow no longer lies on the ground, then animals with white
fur may be more likely to be killed than animals with brown fur.
Those with brown fur are now most likely to reproduce and pass on their alleles to the next
generation.
Over time, brown may become the most common fur colour in the population.
This is an example of directional selection or evolutionary selection.
Directional selection may result in evolution.
Evolution can be defined as a long-term change in the characteristics of a species, or in the
frequency of particular alleles within the species.
In a snowy environment, white animals are more camouflaged, making them less visible to
predators, so are at a selective advantage.
The white animal is most likely to survive.
In an environment without snow, white animals are very noticeable and more likely to be
preyed upon.
The white animal is least likely to survive.
In some circumstances, two different phenotypes can each confer advantages.
For example, in a population of snails, those with dark brown shells and those with pale
shells may each be well camouflaged, while those with mid brown shells may not be
camouflaged.
In this case, selection will tend to remove most of the snails with mid-range colour from the
population, resulting in two distinct colour ranges surviving.
This is called disruptive selection.

THE FOUNDER EFFECT AND GENETIC DRIFT.

Natural selection is not the only way in which allele frequencies can change in a population.
For example, imagine that just three lizards were washed away from an island and drifted
to another island where there were no lizards.
These three lizards would not contain all of the various alleles present in the original
population.
The population that grew from these three colonisers would therefore have different allele
frequencies from the original population.
This is called the founder effect.
In small populations, some alleles may be lost just by chance, because the few individuals
that have them just happen not to reproduce.
This can also happen to relatively rare alleles in larger populations.
This is called genetic drift.

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MUTATIONS

The different alleles of a gene contain slightly different sequences of bases.

These different alleles originally arose by a process called mutation. Mutation is an
unpredictable change in the genetic material of an organism.
A change in the structure of a DNA molecule, producing a different allele of a gene, is a gene
mutation.
Mutations may also cause changes in the structure or number of whole chromosomes in a
cell, in which case they are known as chromosome mutations (or chromosome
aberrations).
However, there are several environmental factors that significantly increase the chances of
a mutation occurring.
All types of ionising radiation (alpha, beta and gamma radiation) can damage DNA
molecules, altering the structure of the bases within them.
Ultraviolet radiation has a similar effect, as do many chemicals – for example, mustard gas.
A substance that increases the chances of mutation occurring is said to be a mutagen or
carcinogen.
A mutation is a random, unpredictable change in the DNA in a cell.

GENE MUTATIONS

In gene mutations, there are three different ways in which the sequence of bases in a gene
may be altered:

1. base substitution, where one base simply takes the place of another; for example, CCT GAG
GAG may change to CCT GTG GAG
2. base addition, where one or more extra bases are added to the sequence; for example, CCT
GAG GAG may change to CCA TGA GGA G
3. base deletion, where one or more bases are lost from the sequence; for example, CCT GAG
GAG may change to CCG AGG AG.

Base additions or deletions usually have a very significant effect on the structure, and
therefore the function, of the polypeptide that the allele codes for.
The amino acids that are coded for by the ‘normal’ sequence CCT GAG GAG, are Glycine
Leucine Leucine.
But the new sequence resulting from the base addition codes for Glycine Tryptophan
Proline, and that resulting from the base deletion is Glycine Serine.
Base additions or deletions always have large effects, because they alter every set of three
bases that ‘follows’ them in the DNA molecule.
Base additions or deletions are said to cause frame shifts in the code.
Often, the effects are so large that the protein that is made is totally useless.
The addition or deletion may introduce a ‘stop’ triplet part way through a gene, so that a
complete protein is never made at all.
Base substitutions, on the other hand, often have no effect at all.
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A mutation that has no apparent effect on an organism is said to be a silent mutation.

Base substitutions are often silent mutations because many amino acids have more than
one triplet code, so even if one base is changed, the same amino acid is still coded for.

Mutations are most likely to occur during DNA replication, for example when a ‘wrong’
base might slot into position in the new strand being built.
Almost all these mistakes are repaired immediately by enzymes, but some may persist.
Conditions resulting from mutations in humans include the following:

Sickle cell anaemia

Results from a substitution in the gene coding for the β polypeptide in a haemoglobin
molecule.
In most people, the β-globin polypeptide begins with the amino acid sequence coded from
the HbA allele: Val-His-Leu-Tr-Pro-Glu-Glu-LysBut in people with the HbS allele, the base
sequence CTT is replaced by CAT, and the amino acid sequence becomes: Val-His-Leu-Tr-
Pro-Val-Glu-Lys.
This small difference in the amino acid sequence makes little difference to the haemoglobin
molecule when it is combined with oxygen.
But when it is not combined with oxygen, the ‘unusual’ β-globin polypeptides make the
haemoglobin molecule much less soluble.
The molecules tend to stick to each other, forming long fibres inside the red blood cells.
The red cells are pulled out of shape, into a half-moon or sickle shape.
When this happens, the distorted cells become useless at transporting oxygen.
They also get stuck in small capillaries, stopping any unaffected cells from getting through.
A person with this unusual β-globin can suffer severe anaemia (lack of oxygen transported
to the cells) and may die.
Sickle cell anaemia is especially common in some parts of Africa and in India.
Similarities between the global distribution of the genetic disease sickle cell anaemia, and
the infectious disease malaria, are a result of natural selection.
This illustrates the effect of environmental factors on allele frequencies.
Malaria is caused by a protoctist, Plasmodium, which is transmitted by Anopheles
mosquitoes.
A person who is homozygous for the faulty allele for the β polypeptide, HbSHbS, has sickle
cell anaemia.
This is a serious disease and a child with this genotype is unlikely to survive to adulthood
and have children.
A person who is homozygous for the normal allele for the β polypeptide, HbAHbA, is
vulnerable to malaria.

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In parts of the world where the Anopheles mosquitoes that transmit malaria are found, and
where malaria is common, a child with this genotype may not survive to adulthood and
have children.
A person who is heterozygous for these alleles, HbAHbS, does not have sickle cell anaemia.
They are also much less likely to suffer from a serious attack of malaria than a person with
the genotype HbAHbA.
Therefore, a heterozygous person is the most likely to survive to adulthood and have
children.
The allele HbS therefore continues to survive in populations where malaria is present,
because it is passed on from generation to generation.

Haemophilia
Results from a mutation in the gene coding for a clotting factor, factor VIII. The mutant
allele is recessive.
This gene is found on the X chromosome, so haemophilia is a sex-linked condition.

Albinism
Results from one of several different mutations in a gene coding for melanin production.
The mutant allele is recessive, and does not allow melanin to be produced.
Mammals homozygous for such an allele have no melanin in their coats or irises, and are
white with pink eyes.
There are several different mutant alleles that can have this effect.
One of them prevents the formation of the enzyme tyrosinase, which is involved in the
conversion of the amino acid tyrosine to melanin.

Tyrosine -tyrosinase→ DOPA → dopaquinone → melanin

Huntington’s disease.
Results from a mutation in the gene coding for protein called huntingtin.
The mutant allele is dominant, and affects neurones in the brain.
These effects are usually not seen until the person is between 35 and 44 years old, when
they begin to develop problems with muscle coordination and cognitive difficulties.

CHROMOSOMAL MUTATIONS.

Trisomics are those diploid organisms which have an extra chromosome (2n + 1).
Monosomics are those diploid organisms which have lost a chromosome (2n – 1).
Since the extra chromosome may belong to any one of different chromosomes of a haploid
complement, the number of possible trisomics will be equal to the haploid chromosome
number.

Down’s syndrome

Down’s syndrome is named after the physician J.Langdon Down who first described this
genetic defect and it was formally called mongolism or mongolian idiocy.
It is usually associated with a trisomic condition for one of the smallest human autosomes
(i.e., chromosome 21).
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It is the most common chromosomal abnormality in live births (1/650 births).

There are about 50 physical characteristics shown by DS infants soon after birth.
These include mild or moderate mental retardation; eyes that slant up and out with
internal epicanthal folds; a tongue that is large, swollen and protruding; small and under
developed ears; a single palmar crease; short stature; stubby fingers; an enlarged liver and
spleen.
Women over 45 years of age are about twenty times more likely to give birth to a child with
DS than women aged 20.
Nondisjunction of chromosome pair 21 during oogenesis is the main cause of occurrence of
trisomy-21.
This event is found to be affected either by senescence of oocytes, virus infection, radiation
damage, etc. (e.g., mothers who have had infectious hepatitis prior to pregnancy may have
three times more chances to give birth to DS infants).

Turner’s Syndrome (XO Females).

A female with 44 autosomes and only with one X chromosome in her body cells exhibits
symptoms of Turner’s syndrome.
Such females are sterile and have short stature, webbed neck, a low hairline on the nape of
the neck, broad shield-shaped chest, low intelligence, under developed breasts, poorly
developed ovaries, sparse pubic hairs and no axillary hair.

Super females (XXX Females).

Such females are called super females because they possess an extra X chromosome (44
autosomes+3X chromosomes).
Some females may have 4 or 5X chromosomes besides the normal autosomes.
All such poly-X females are mentally retarded and sterile showing abnormal sexual
development.

Klinefelter’s Syndrome (XXY Males).

When an abnormal egg with XX chromosomes is fertilized by a sperm carrying Y

chromosome, a zygote having three sex chromosomes (XXY chromosomes) is formed.
The resulting young one is an abnormal sterile male showing the following features: small
testicles, mental retardation, longer arms, feeble breasts, higher pitched voice and sparse
body hairs.

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EVOLUTION

Variation

Genetic variation is caused by:

1. Independent assortment of chromosomes, and therefore alleles, during meiosis.
2. Crossing over between chromatids of homologous chromosomes during meiosis.
3. Random mating between organisms within a species.
4. Random fertilisation of gametes.
5. Mutation.

The first four of these processes reshuffle existing alleles in the population.
Offspring have combinations of alleles which differ from those of their parents and from
each other.
This genetic variation produces phenotypic variation.
Mutation, however, does not reshuffle alleles that are already present.
Mutation can produce completely new alleles.
This may happen, for example, if a mistake occurs in DNA replication, so that a new base
sequence occurs in a gene.
The new allele is very often recessive, so it frequently does not show up in the population
until some generations after the mutation actually occurred, when by chance two
descendants of organisms in which the mutation happened mate and produce offspring.
Mutations that occur in body cells, or somatic cells, often have no effects at all on the
organism.
Somatic mutations cannot be passed on to offspring by sexual reproduction.
However, mutations in cells in the ovaries or testes of an animal, or in the ovaries or
anthers of a plant, may be inherited by offspring.
If a cell containing a mutation divides to form gametes, then the gametes may also contain
the mutated gene.
If such a gamete is one of the two which fuses to form a zygote, then the mutated gene will
also be in the zygote.
This single cell then divides repeatedly to form a new organism, in which all the cells will
contain the mutated gene.
Genetic variation, whether caused by the reshuffling of alleles during meiosis and sexual
reproduction or by the introduction of new alleles by mutation, can be passed on by
parents to their offspring, giving differences in phenotype.
Genetic variation provides the raw material on which natural selection can act.
Variation within a population means that some individuals have features that give them an
advantage over other members of that population.
Variation in phenotype is also caused by the environment in which organisms live.
For example, some organisms might be larger than others because they had access to
better quality food while they were growing.
Variation caused by the environment is not passed on by parents to their offspring.

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Continuous Variation and Discontinuous variation.

Phenotypic differences include qualitative differences such as blood groups and

quantitative differences such as height and mass.
Qualitative differences fall into clearly distinguishable categories, with no intermediates –
for example, you have one of four possible ABO blood groups: A, B, AB or O.
This is discontinuous variation.
In contrast, the quantitative differences between your individual heights or masses may be
small and difficult to distinguish.
When the heights of a large number of people are measured, there are no distinguishable
height classes.
Instead there is a range of heights between two extremes.
This is continuous variation.
Both qualitative and quantitative differences in phenotype may be inherited.
Both may involve several different genes.
However, there are important differences between them.
In discontinuous (qualitative) variation:
1. different alleles at a single gene locus have large effects on the phenotype
2. different genes have quite different effects on the phenotype.
In continuous (quantitative) variation:
1. different alleles at a single gene locus have small effects on the phenotype
2. different genes have the same, often additive, effect on the phenotype
3. a large number of genes may have a combined effect of a particular phenotypic trait; these
genes are known as polygenes.

Environmental effects on Phenotype.

Evolution is the change in the characteristics of a population or a species over time.

The theory of evolution states that species have changed over time.
One species can, over time, give rise to one or more new species.
The sex of some reptiles may depend upon the temperature at which the individual
develops.
For example, in most turtles, only females are produced at high temperature (30–35oC) and
only males are produced at low temperatures (23–28°C).
The reverse is true in crocodiles, alligators and some lizards, where males are produced at
high temperature and females are produced at low temperature.

Molecular evidence for evolutionary relationships.

There is a large quantity of evidence to support the theory of evolution.

One example of this evidence is the comparison of base sequences in DNA, or amino acid
sequences in proteins, in different organisms.
Mitochondria contain a single DNA molecule that is passed on down the female line.

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Analysis of mitochondrial DNA (mtDNA) can be used to determine how closely related two
different species are.
The more similar the sequences of bases in their DNA, the more closely related they are
considered to be.
Amino acid sequences in proteins can be used in a similar way.
For example, the protein cytochrome C, involved in the electron transport chain, is found in
a very wide range of different organisms, suggesting that that they all evolved from a
common ancestor.
Differences in the amino acid sequences in cytochrome C suggest how closely or distantly
related particular species are.

Speciation

Speciation is the production of one or more new species from an existing species.
A species is often defined as a group of organisms with similar morphological and
physiological characteristics, which are able to breed with each other to produce fertile
offspring.
So, for example, lions and tigers are distinct species, even though in a zoo they may be
persuaded to breed together.
Such interbreeding between the two species never occurs in the wild and, in any case, the
offspring are not able to breed themselves.

So how are new species produced?

We have seen that natural selection can produce changes in allele frequency in a species,
but how much change is needed before we can say that a new species has been formed?
The crucial event that must occur is that one population must become unable to interbreed
with another.
They must become reproductively isolated from one another.
Once this has happened, we can say that the two populations are now different species.

Allopatric speciation

A group of individuals in the population may become geographically separated from the
rest.
If speciation occurs as a result of geographical separation, it is known as allopatric
speciation.
For example, a few lizards might get carried out to sea on a floating log, and be carried to an
island where that species of lizard was not previously found.
The lizards on this island are subjected to different environmental conditions from the rest
of the species left behind on the mainland.
Different alleles are therefore selected for in the two groups.
Over time, the allele frequency in the lizards on the island becomes very different from the
allele frequency in the original, mainland lizards.

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This may cause their characteristics to become so different that — even if a bridge appears
between the island and the mainland — they can no longer interbreed to produce fertile
offspring.

Sympatric speciation

Two groups of individuals living in the same area may become unable to breed together —
for example, because one group develops courtship behaviours that no longer match the
courtship behaviour of the other group, or because they live in different habitats in the
same area (ecological separation).
This is known as sympatric speciation.

Isolating mechanisms
Possible reasons for the failure of two groups to interbreed include the following:
1. They have evolved different courtship behaviours, so that mating no longer occurs between
them.
2. The sperm of one group are no longer able to survive in the bodies of the females of the
other group, so fertilisation does not occur.
3. The number or structure of the chromosomes is different, so that the zygote that is formed
by fertilisation does not have a complete double set of genes and cannot develop.
Even if a zygote is successfully produced, the resulting offspring may not be able to form
gametes, because its two sets of chromosomes (one from each parent) are unable to pair up
with each other successfully and so cannot complete meiosis.
These isolating mechanisms can be divided into pre-zygotic and post-zygotic mechanisms.
Pre-zygotic mechanisms act before a zygote is formed. Post-zygotic mechanisms act after a
zygote is formed.

Extinction
The fossil record shows us that many species of organism used to live on Earth but now no
longer exist.
There are been several times when very large numbers of species became extinct, and
these are known as mass extinctions.
For example, all dinosaur species disappeared from the Earth about 66 million years ago.
There is still uncertainty about exactly why this happened, but it is thought to have resulted
from severe climate change following a collision of a large asteroid with Earth and/or very
extensive volcanic eruptions.
In general, extinctions tend to be caused by:
1. Climate change; for example, global warming can result in some species not being able to
find habitats to which they are adapted for survival.
2. Competition; for example, a newly evolved species, or one that migrates into a new area,
may out-compete a resident species, which then becomes extinct.
3. Habitat loss; for example, if humans cut down large areas of rainforest.
4. Direct killing by humans.

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…………………………………………………………………
KEY CONCEPT.

---------------ARTIFICIAL SELECTION.

OBJECTIVES.

-------------Describe using examples, how artificial selection is carried out.

…………………………………………………………………

ARTIFICIAL SELECTION

Selective breeding is the choice, by humans, of which animals or plants are allowed to
breed.
This process is sometimes known as artificial selection.

Breeding cattle with high milk yields.

Dairy cattle are breeds of cattle that are kept for milk production.
Only females (cows) produce milk.
Selective breeding is therefore done by using cows that have high milk yields and bulls
whose female relatives (mothers, sisters) have high milk yields.
If a particular bull is proved to have many female offspring with high milk yields, then
semen can be taken from him and used to inseminate many cows, using artificial
insemination procedures. Selective breeding has produced massive increases in the volume
and quality of milk produced by cows.
However, such intensive selective breeding can inadvertently cause health problems for
the cattle.
For example, producing so much milk can weaken their general health.
Carrying such large quantities of milk in their udders (mammary glands) can cause
problems with leg joints.

Breeding disease-resistant varieties of wheat and rice

Farmers may want to have wheat or rice plants that produce large yields of grain and that
are resistant to fungal disease such as rust.
They want the plants to be short, so that more energy can be put into growing grain (seed)
rather than wasted on stems, and also so that the plants are less likely to fall over in heavy
rain or high wind.
Breeders can choose a wheat or rice plant that is short, with high yields of grain, and
another that does not have these characteristics but is very resistant to rust.
They take pollen from one plant and place it on the stigmas of the other. (The anthers of the
second plant are first removed, so that it cannot pollinate itself.)
The resulting seeds are collected and sown.
The young plants are allowed to grow to adulthood.

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Then the plants that show the best combination of desired characteristics are bred
together.
This continues for several generations, until the breeder has a population of plants that
have high yield and high resistance to rust.

Breeding dwarf varieties of crop plants

We have seen that gibberellin causes plant stems to grow longer.

Some varieties of crop plants have mutant alleles of the gibberellin gene, and do not
produce as much gibberellin.
These dwarf plants are often higher yielding than tall varieties, because they do not ‘waste’
energy in growing tall.
They may also be more able to stand upright in strong winds or heavy rain.
Selective breeding can be used to combine this characteristic with high yield.

Inbreeding and hybridisation in maize

Farmers require crop plant varieties in which all the individuals are genetically identical.
This means that, if the seed is sown at the same time and in the same conditions, then the
plants will all grow uniformly.
They will ripen at the same time and grow to the same height, which makes harvesting
easier.
The grain will all have similar characteristics, which makes marketing easier.
Genetic uniformity is usually achieved through inbreeding (breeding a plant with itself, or
with other plants with the same genotype) for many generations.
However, in maize, inbreeding results in weak plants with low yields.
This is called inbreeding depression.
Maize breeding therefore involves producing hybrids between two inbred lines.
Like most selective breeding of cereal crops, it is done by commercial organisations, not by
farmers themselves.
Inbred lines (genetically uniform populations) of maize with desirable characteristics are
identified, and crossed with other inbred lines with different sets of desirable
characteristics.
The resulting hybrids are assessed for features such as yield, ability to grow in dry
conditions, and resistance to insect pests.
The best of these hybrids are then chosen for commercial production.
Large quantities of the two inbred lines from which the hybrid was bred are grown, as it is
from these that all the seed to be sold will be produced.
Each year, the two inbred lines are bred together, and the seed collected from them to sell
as hybrid seed.
This method of breeding avoids problems of inbreeding depression.
The hybrid plants are genetically uniform (although they will be heterozygous for several
genes) because they all have the same two inbred parents.

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Notice:
Artificial selection is similar to natural selection, in that individuals with particular
characteristics are more likely to breed than others.
However, in artificial selection, individuals without these characteristics will not breed at
all, whereas in natural selection there is still a chance that they might breed.
Artificial selection may therefore produce bigger changes in fewer generations than natural
selection normally does.
The breeders do not need to know anything about the genes or alleles that confer the
characteristics they want their plants to have; they just choose the plants with those
characteristics and hope that the appropriate alleles will be passed on to the next
generation.
Artificial selection usually requires many generations of selection before the desired result
is obtained.

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QUESTION AND ANSWER.

Outline how artificial selection differs from natural selection. [6]

ARTIFICIAL SELECTION NATURAL SELECTION

Selection pressure caused by humans. Environmental selection pressure.
Genetic diversity lowered. Genetic diversity remains high.
Inbreeding common. Out breeding common.
Loss of vigour due to inbreeding Increased vigour with less chances of
depression. inbreeding depression.
Increased homozygosity. Increased heterozygosity.
No isolation mechanisms operating. Isolation mechanisms do operate.
Usually faster. Usually slower.
Selected feature for human benefit Selected feature for organism’s benefit.
Not for, survival or evolution Promotes, survival or evolution.

Describe the role of natural selection in evolution. [8]

Individuals in population have great reproductive potential.
Numbers in population remain roughly constant.
Many fail to survive or die.
Many do not reproduce.
This is due to environmental factors: give examples.
Variation in members of population.
Those best adapted survive.
Those best adapted reproduce / pass on their alleles; R genes.
Genetic variation leads to changes in phenotype.
Genetic variation leads to changes in the gene pool.
Over time genetic variation produces evolutionary change.
New species arise from existing ones. (Speciation).
Explanation of Directional selection. [8 marks]

Describe why variation is important in natural selection. [6]

Explain continuous and discontinuous variation.
Explain genetic or inherited variation.
Elucidate on variation in phenotype or characteristics.
Clarify that Phenotypic variation can be due to interaction of genotype and environment.
For example, variations in characteristics are due to factors that influence survival.
Describe intra-specific competition or the struggle for existence.
Organisms with favourable characteristics survive.
The organisms can pass on favourable characteristics to offspring.
Those with disadvantageous characteristics die ; [6 marks]

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Explain the role of isolating mechanisms in the evolution of new species. [8]
First define the classification of organisms according to species.
Describe allopatric isolation or geographical isolation.
Give reference to examples e.g. islands, lakes, mountain chains, idea of barrier.
Give examples of organisms.
Explain that the populations are prevented from interbreeding.
Explain that isolated populations become subjected to different selection pressures or
conditions.
Elucidate that over time sufficient differences in variation prevent interbreeding.
Describe sympatric isolation or reproductive isolation.
Give reference to behavioural barriers (within a population)
Give examples like day active and night active.
Give reference to changes in the gene pool.
Describe the changes in allele frequencies. [8 marks]

Explain, using named examples, how mutation can affect phenotype. [6]
Define gene mutation.
Use examples e.g. (sickle cell anaemia or PKU).
Describe that it occurs as a change in gene content or DNA or bases.
Explain that this is due to different amino acids being used in the polypeptide chain.
This leads to a different polypeptide chain or different protein or non-functional protein.
Define chromosomal mutations.
Give examples e.g. (Down’s syndrome or Turner’s syndromes).
Explain that there are structural changes in chromosomes.
Explain that there is a change in number of chromosomes. [6 Marks]

Explain, using examples, how the environment may affect the phenotype of an
organism. [8]
Phenotypic variation results from interaction of genotype and environment.
VP = VG+ VE.
Environment may limit expression of gene.
Give examples e.g. for size / mass / height.
This may be because food or nutrients are missing causing malnutrition. Give named
examples of nutrients or minerals missing.
Environment may, trigger or switch on a gene.
Environmental conditions e.g. low temperature lead to change in animal colour.
High temperature, causing curled wings in Drosophila or affecting gender in crocodiles.
UV light affecting melanin production.
Wavelength of light affecting flowering or germination or fruit colour.
Environmental effects usually greater on polygenes.
Environment may induce mutation affecting phenotype. [8 marks]

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Explain how meiosis and fertilisation can result in genetic variation amongst offspring. [8]
Describe Chiasmata formation and crossing over between non-sister chromatids of,
homologous chromosomes or bivalents in prophase 1.
Describe the exchange of genetic material.
Linkage groups broken.
New combination of alleles created.
Independent assortment during metaphase 1.
Independent assortment during metaphase 2.
Detail of independent assortment.
Possible mutation.
Random mating.
Random fusion of gametes. [8 Marks]

Explain the role of isolating mechanisms in the evolution of new species. [8]
Describe allopatric speciation or geographical isolation or spatial separation.
Refer to the existence of a barrier.
Give examples of the organism.
Describe sympatric speciation.
Give examples of sympatric speciation.
Explain how isolating mechanisms may lead to meiosis problems.
Explain how it may lead to polyploidy.
Explain that this may lead to behavioural or temporal or ecological or structural, isolation.
Isolated populations prevented from interbreeding or can only breed amongst themselves.
No, gene flow / gene mixing, (between populations).
Different selection pressures operate.
Natural selection occurs in different environments.
This causes changes in allele frequencies between populations resulting in different gene
pools.
Over time (differences are large enough to prevent interbreeding).
Populations become reproductively isolated. [8 Marks]

Describe and explain, using an example, the process of artificial selection. [8]
Humans must be linked to, choosing or selecting or mating etc.
Parents with desirable feature.
Give examples of organisms and features selected for.
Selected organisms are bred or crossed.
Select offspring with desirable feature.
Desirable selection process is repeated over many generations.
Increase in frequency of desired alleles and decrease in frequency of undesired alleles.
There is loss of hybrid vigour.
There is an increase in homozygosity.
There is inbreeding depression. [8 marks]

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Explain the benefits of maintaining biodiversity. [6]

Cultural reasons, give examples.
Aesthetic or leisure reasons give examples.
Moral or ethical reasons, e.g. right to exist and prevents extinction.
Resource material; e.g. wood for building, fibres for clothes and food for humans.
Tourism.
Economic benefits.
Species may have uses in the future e.g. medical use.
Maintains, food webs or food chains.
Nutrient cycling or Bioremediation and also protection against erosion.
Climate stability.
Maintains, large gene pool causing increased genetic variation. [6 Marks]

“A FARMER SUFFERS THE PAIN OF LABOR IN THE FIELDS WHILE THE LAZY MAN WASTES AWAY IN THE COMFORT OF SLEEP.
IN THE TIME OF HARVEST, THE FARMER SHALL REJOICE WITH HIS FAMILY AT THE FRUIT OF HIS SWEAT WHILE THE LAZY
BLAME THE GODS FOR THEIR HUNGER AND MISFORTUNE”.

Joy D Moyo-2009.

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