Cytogenetics: Prepared By: Arlene T. Conag, RMT, LPT Instructor
Cytogenetics: Prepared By: Arlene T. Conag, RMT, LPT Instructor
Antigenic traits are the reason to why you have to be vaccinated every
year.
• TYPES OF GENETICS DISEASES
• CHROMOSOME DISORDERS
• Entire chromosomes (or large segments of them) are missing, duplicated, or
altered
• Examples: Down and Turners Syndrome
• SINGLE-GENE DISORDERS
• Disorders in which single genes are altered, these are often termed
mendelian conditions
• Examples: Sickle cell disease, Hemophilia, and Cystic fibrosis (can be from
infection from other organisms like Pseudomonas aeruginosa)
• MULTIFACTORIAL DISORDERS
• Result from a combination of multiple genetic and environmental causes
• Examples: Birth defects (cleft lip, cleft palate) and Adult disorders (heart
disease and diabetes)
• MITOCHONDRIAL DISORDERS
• Caused by alterations in the small cytoplasmic mitochondrial chromosome
• Examples: Lactic acidosis
HISTORY OF GENETICS
microscope
main features of eukaryotic chromosomes
• 1. Chromosomes are clearly visible during mitotic metaphase.
• 2. Chromosomes bear genes in a linear fashion and thus are
concerned with transmission of characters, from generation to generation.
• 3. Chromosomes of eukaryotes are enclosed by a nuclear membrane.
• 4. Chromosomes vary in shape, size and number in different species of
Plants and animals.
• 5. Chromosomes have property of self-duplication, segregation and
mutation.
• 6. Chromosomes are composed of DNA, RNA and histones. DNA is the
major genetic constituent of chromosome.
Chromosome shape
• usually observed during anaphase
• determined by the position of centromere
• rod shape, J shape and V shape
Chromosome size
• measured at mitotic metaphase. It is measured in two ways:
in length and diameter maximum length of chromosome is observed
during interphase and minimum during anaphase varies from species to
species
• Giant chromosomes have length upto 300μ
Chromosome number
• Each species has definite and constant somatic and gametic chromosome number.
• Somatic chromosome- is the number of chromosomes found in somatic cells and it is
represented as diploid number (2n)
-contain two copies of each
• chromosome (except sex chromosome) one of which is inherited from father
while other is inherited from mother.
• Gametic cells or gamets contain one half of the somatic chromosome number
which is represented by haploid number or (n).
• The genetic chromosome number of a true diploid species is called basic number.
• It is the minimum haploid chromosome number of any species, which is denoted
• by x.
Chromosome structure
• The structure of chromosome becomes easily visible during
metaphase due to coiling of interphase chromosomes. Each
chromosome consists of seven parts: (i)centromere, (2) chromatids, (3)
seconday constriction and sataellite, (4) telomere, (5) chromomere, (6)
Chromonema and (7) matrix
• 1. Centromere (Primary Constriction)
• It is a localized region of the chromosome with which spindle fibres
are attaced during metaphase.
Chromosome structure
1. Centromere (Primary Constriction)
• four important functions: (i) orientation of chromosomes at
metaspace, (ii) Movement of chromosome during anaphase,
(iii) formation of chromatids, and (iv) chromosomes shape.
Centromere may occupy various positions on the chromosome, viz.,
terminal, sub-terminal, median etc
• 2. Chromatid
• One of the two distinct longitudinal subunits of a chromosome
• These subunits of a chromosome get separated during anaphase.
2. Chromatid
• Chromatids are of two types: sister chromatids and non-sister chromatids.
• 3. Secondary Constriction
• Some chromosome exhibits secondary constriction in addition to primary
constriction. It may be present either in short or long arm of the
chromosome. The chromosomal region between secondary constriction and
nearest telomere (end of the chromosome) is called as satellite or trapant.
The chromosome having satellite is known as satellite chromosomes. The
position of secondary constriction in the chromosome is constant. The
number of satellite chromosome in a genome varies from species to species.
4. Telomere
• The two ends of the chromosomes are known at telomeres.
• highly stable and they do not fuse or unite with telomeres of other
chromosomes
• The structural integrity and individuality of the chromosome is
maintained by telomeres.
• 5. Nucleolar Organizer Region (NOR)
• During interphase, nucleolus of the cell is always associated with secondary
construction of satellite chromosome. So the secondary constriction is also
called as NOR. The NOR contain several copies of gene coding for ribosomal
RNA.
6. Chromomeres
• The chromosome of some of the species show small bead like structures called
as chromomeres
• 7. Chromonema
• Under light microscope, thread like coiled structures are found in the
chromosomes and chromatids which are called chromonema (plural
chromonemata).
three main functions:
a. controls size of chromosomes
b. results in duplication of chromosomes
c. gene bearing portion of chromosomes
8. Matrix
• A mass of aromatic material in which chromonemata are embedded
is called matrix
• Matrix is enclosed in a sheath which is known as pellicle. Both matrix
and pellicle are non genetic materials.
Karyotype
• Karyotype is a phenotypic appearance of chromosomes of a particular
species. In the study of kayotype, various features of chromosomes are
taken into account: (i)number (ii) position of centromere (iii) size (iv)
possibility of satellite (v) degree and distribution of meterchromatin
• Idiogram
-Diagramatic representation of morphological features of haploid
chromosome complements of a species is known as ideogram.
• Heterochromatin
-The region of the chromosome, which takes up deep stain during
interphase and prophase, is called heterochromatin
2 Tyes of Heterochromatin
i. Constitutive Heterochromatin: The regions centromere and telomere
of the chromosome remain permanently in the heterochromatin stage.
ie., it does not revert to euchromatic stage.
ii. Facultative Heterochromatin: It is the region of the chromosome
which undergo euchromatin stage.
• Euchromatin: The region of the chromosome, which takes up little
stain during interphase, is called Euchromatin. It is the active region of
the chromosome, involved in transcription.
Classification of chromosomes
• Chromosomes can be classified in different ways. The various criteria
which are usually used for classification of chromosomes include, (i)
position of centromere, (ii)number of centromere, (iii) shape at
anaphase, (iv) structure and appearance, (v) role in heredity
essentiality, (vi) role in sex determination, and (vii) structure and
function
Chromosome models
• Folded fibre model-chromatin fibres are about 230° A in diameter
• 2. Nucleosome – solenoid model-Chromatin fibres are 300°A in
diameter.
Special types of chromosome
• Lambrush chromosome
-These are the special type of chromosomes found in primary oocyte nuclei
in amphibians. Lambrush chromosomes are up to 1mm length. Each
lambrush chromosome contains a central axial region where the two
chromatids are highly condensed and numerous pairs of lateral loops give
them a characteristics lambrush appearance. The loops are the
transcriptionally active region of the single chromatids.
• Salivary gland chromosome / polytene chromosome / Giant chromosome
-The polytene chromosomes occure in the tissues of salivary glands, guts
epithelium and malpighain tubules of many insects of the order Diptera.
• Iso-chromosome
-A chromosome with two identical arms and identical genes is called as
isochromosome. The arms are mirror images of each other
• ‘B’ chromosome
-It is a particular kind of supernumery chromosome that may or may
not be found in organisms as extra chromosomes over and above the
standard diploid or polyploidy chromosome complements.
MITOSIS
One division per cycle, i.e.one Two divisions per cycle i.e. two
2. cutoplasmic division (cytokinesis) per cytoplasmic divisions, one following
equational chromosomal division. reductional chromosomal division
and one following equational
chromosomal division.
Chromosomes fail to synapse; no Chromosomes synapse and form
3. chiasmata formation; genetic chiasmata; genetic exchange occurs
exchange between homologous between homologues.
chromosomes does not occur.
Begins at the zygote stage and Occurs only after a higher organism
9. continues through out the life of the has begun to mature; occurs in the
organism zygote of many algae and fungi
INHERITANCE
• Gene
An inherited factor that determines biological characteristics of an
organism is called gene. In modern term, gene may be a segment of
DNA which code forsingle polypeptide chain.
• Allele
Alternative form of a gene occupying the same locus of the
homologous chromosome.
• Locus
The position of gene on the chromosome
• Dominance
The suppression of expression one allele by another allele of the same gene is called
dominance.
• Recessive
The characters which lack the ability to express in F1 generation is called recessive.
• Genotype
Genetic constitution (make up) of an individual is called genotype. The genotype of tall
plant is TT/Tt and dwarf plant is tt.
• Phenotype
The appearance of an individual produced by the genotype in co-operation with the
environment is called phenotype.
• Homozygous
1. Individual having identical alleles for a character is known as
homozygous genotype.
2. The homozygous genotypes are produced by the union of gametes
carrying identical alleles.
3. A heterozygote produces different kinds of gametes.
• Pure line
A pure line is a plant which breeds true on selfing, i.e., produces only
one type of offspring on self pollination.
• Monohybrid
The F1 offspring produced by crossing two true breeding parents, which differ in one character
only. The monohybrid individuals are heterozygous at one locus
• Dihybrid
The F1 offspring produced by crossing two true breeding parents, which differ in two characters.
Dihybrid individuals are heterozygous at two loci
• Polyhybrid
The F1 offspring produced by crossing two true breeding parents, which differ
for more than three characters, is known as polyhybrid.
• Back cross
If the F1 progeny is mated back to one of their parents, the mating is termed as
Back cross.
Test cross
• It is a cross between the F1 hybrid and its recessive parent. The purpose of test cross is to discover
how many different kind of gametes are being produced by the individual whose genotype is in
question.
• Uses of test cross
1. Test cross verifies the Mendel’s factorial hypothesis
According to Mendel, a monohybrid tall (Tt) produce two kinds of gametes in equal proportion and
recessive parent produce only one kind of gamete‘t’ .Hence this back cross should give Tall and dwarf
plants in 1 : 1 ratio. In actual experiment also we get tall and dwarf in ‘1:1’ ratio. Thus Mendel’s
factorial hypothesis is verified.
2. Test cross is used for identifying the genotype of an unknown parent
A tall pea plant may be either homozygous (TT) or heterozygous (Tt). Its genotype may be determined
by test cross. If the test cross progeny were tall, then the unknown tall genotype is ‘homozygous’. If
that test cross progeny have tall and dwarf plants in equal proportion, then the unknown genotype is
heterozygous.
GENETIC MATERIAL
PREPARED BY: ARLENE T. CONAG, RMT, LPT
INSTRUCTOR
GENETIC MATERIAL
• The genetic material controls the organism’s composition and it is identical in the
somatic cells of a multicellular organism. The genetic material has the ability to
replicate with the cell so new cells contain the same genetic material as the
parent cell.
• There are genetic materials found in the form of plasmids. The plasmids are
genetic material found outside the chromosomes of certain bacteria. They are
discrete, circular, supercoiled, and much smaller than chromosomal genetic
information. Plasmids usually contain information encoding for non-essential
traits such as antibiotic resistance and toxins production. Plasmids can replicate
independently from the cell. Conjugative plasmids can be transferred among
bacteria leading to the appearance of new features in the recipient bacterial cell.
DNA STRUCTURE
• DNA is composed of different combinations of four nucleotides:
• guanine (G)
• cytosine (C)
• adenine (A)
• and thymine (T)
• where C is paired with G and A is paired with T on the opposite strand
forming a base.
• The base is attached to a phosphate molecule and a ribose sugar
forming a nucleotide.
DNA as Genetic Material
• Griffith experiment
The phenomenon of transformation in pneumococcus bacterium was
discovered by Fredrick Griffith in 1928. There are two types of
pneumococcus bacteria – virulent (pathogenic) and Avirulent (non-
pathogenic). Virulent strains have polysaccharide capsules and give
smooth colonies. Avirulent strains have no capsules and give rough
colonies. The virulent strain has the antigenic property with serotype III
and Avirulent has the serotype II.
Griffith experiment
RNA AS GENETIC MATERIAL