Topic 4: GENETICS

4.1 Chromosomes, genes, alleles and mutations

4.1.1 In eukaryotes that reproduce sexually, chromosomes come in pair and are made of up
proteins and DNA. Prokaryote DNAs are not associated with proteins.
4.1.2 Definitions
(a) Gene: A segment of DNA which contains hereditary materials controlling a specific
characteristic and the cellular activities
- Specific length codes for a protein
(b) Allele: A specific form of gene
(c) Genome: Complete set of genes in an organism
(d) Locus: The specific region where a gene occupies














Structure of Chromosome
1) 2 strands of DNA = double helix
2) 50% of chromosomes are protein
- Histones
- Repair and copy DNA
3) The number of chromosome per species is fixed (even numbers)
4) The number of chromosome per cell is constant
5) Shape of chromosome is fixed
- Fixed length
- Centromere (narrow region) always at the same position on a chromosome
6) Occur in homologous pairs (one from father, the other from mother)
- Same gene sequence though from different parents
7) Contain a linear series of genes
8) Chromosomes copy themselves during S phase of interphase
9) Usually exist as invisible chromatins

** REFER TO TOPIC 1 NOTE ON MITOSIS**

Comparison between meiosis and mitosis



Meiosis Mitosis
Definition
A type of cellular reproduction in which
the number of chromosomes are
reduced by half through the separation
of homologous chromosomes,
producing four haploid cells.
A process of asexual reproduction in
which the cell divides in two
producing a replica, with an equal
number of chromosomes in each
resulting diploid cell.
Function
Gametes formation Cellular Reproduction & general
growth and repair of the body
Genetically Different identical
Crossing Over Yes, mixing of chromosomes can occur. No, crossing over cannot occur.
Pairing of
Homologs
Yes No
Number of
Divisions
2 1
Number of
Daughter Cells
produced
4 haploid cells 2 diploid cells
Chromosome
Number
Reduced by half Remains the same
Creates
Sex cells only: Female egg cells or
Male sperm cells
Makes everything other than sex
cells
4.2 Meiosis
4.2.1 Meiosis: A reduction cell division which produces 4 haploid daughter cells, that is the
halving the number of chromosomes of the cells by separating the homologous chromosomes
from a diploid chromosomal number.
4.2.2 Homologous chromosome: A pair of chromosomes which are similar in size and shape,
both carrying the same genes, though the alleles may be different. Each of pair originate
maternally and paternally respectively.
4.2.3 Process of meiosis
A) Interphase (a) G
1
phase
(b) S phase: DNA replication
(c) G
2
phase

B) Meiosis I (a) Prophase I ~ Chromosomes condense
~ Homologous chromosomes pair up to form bivalent
~ Crossing over at chiasmata between 2 non-sister chromatids
~ Spindle fibres form
~ Nucleolus disappears and nuclear membrane disintegrates
(b) Metaphase I ~ Bivalents line at up cell equator
~ Members of bivalents attached to spindle fibre at centromere
(c) Anaphase I ~ Spindle fiber contracts
~ Homologous pair separate and move to opposite poles
(d) Telophase I ~ 2 cells, each containing a single set of chromosomes of the
homologous pairs
~ Each chromosome has 2 chromatids
Meiosis II Refer to mitosis
Total number of divisions: 2
Results: 4 haploid cells





4.1.3 Gene mutation: Abrupt changes in the structure, arrangement or amount of DNA of
chromosomes which results in the change in characteristics of an organism.














4.1.4 Base substitution (gene mutation) example: Sickle-cell anaemia
Location: Chromosome 11
Bases involved: GAG changed into GTG
Protein changes: Valine produced instead of glutamic acid. 2 beta protein is changed.
Genetic Variation
1) Sources:
(a) Crossing over within bivalents during prophase I
(b) Independent assortment during metaphase I
- Alteration or non-production in production of cell protein
2 locations of mutation
1) Somatic mutation
- Non-inheritable
2) Germ line mutation
- Inherited by the offsprings and future generations
Types of mutation

Appearance: Moon-shaped
What happens: Quaternary structures of haemoglobin of sickle-shaped clump together, reducing
total surface area to carry oxygen
Benefit: Resistance to malaria





Severity: Homozygous recessive: Minimal chances of survival
Heterozygous: Mild anaemia

4.2.4 Non-disjunction (chromosomal mutation) example: Downs syndrome
- Failure of a pair of chromatids or members in a homologous chromosome to separate and move
to opposite poles of the cell
Name: Trisomy 21
Location: Chromosome 21 (total of 47 chromosomes)

4.2.5 In karyotyping, chromosomes are arranged in pairs according to their size and structure
4.2.6 Steps to perform karyotyping for pre-natal diagnosis
1) Harvest cells using chorionic villus sampling or amniocentesis
2) Chemically induce and halt cell division the moment the chromosomes are visible
3) Stain the chromosomes and arrange according to size and structure

4.2.7 Know how to determine gender and non-disjunction from a karyotype

Malaria
1) Caused by: Plasmodium (a protozoa)
2) Vector: Anopheles (a mosquito)
3) Heterozygous for haemoglobin S: less likely to suffer severe malaria
4) Reason: Plasmodium cannot complete life cycle in sickle haemoglobin








4.3 Theoretical Genetics
4.3.1 Definitions:
(a) Genotype: Symbolic representation of a pair of alleles possessed by an organism
(b) Phenotype: The characteristics or traits of an organism (the expressive form of genotypes)
(c) Dominant allele: An allele which has the same effect on the phenotype whether paired with
the same allele or a different one
(d) Recessive allele: An allele which has effect on the phenotype when only in homozygous state
(e) Codominant alleles: Pairs of alleles that both affect the phenotype of the organism when
present in heterozygote state
(f) Homozygous: Having 2 identical alleles for a gene
(g) Heterozygous: Having 2 different alleles for a gene
(h) Carrier: An individual who has a recessive allele of a gene which does not affect the
phenotype of the individual
(i) Test-cross: Testing a suspected heterozygote organism by crossing it with about known
homozygote recessive organism.

4.3.2 Know how to construct a Punnett grid to identify genotype and phenotype of offspring of
monohybrid cross
4.3.3 Some genes have more than 2 alleles (example: blood group)
Amniocentesis
1) Ultrasound scanning to help locate the withdrawal needle
2) Draw amniotic fluid within 16-30 weeks of pregnancy
3) Fluid contains cells from the embryo surface

Chorionic Villus Sampling
1) Sample part on the placenta named chorion is removed to be studied
2) 8-10 weeks of pregnancy

4.3.4 Blood groups (A, B, O and AB) are example of multiple alleles and codominant alleles
4.3.5 XY sex chromosome: Male
XX sex chromosome: Female
- On the Y chromosome, there is gene that codes for testis determining factor which initiates
production of testosterone and halts the development of female genitalia during embryonic stage.
4.3.6 X chromosomes carry more genes than Y chromosomes (Y chromosomes are shorter)
4.3.7 Sex linkage: Genetic traits whose alleles has their loci on the X or Y chromosomes

4.3.8 Sex-linked diseases
1) Color-blindness
- recessive allele on the X chromosome
2) Haemophilia
- Blood not able to clot normally
- recessive allele on the X chromosome

4.3.9 & 4.3.10
For females:
Homozygous dominant: Normal
Heterozygous: Carrier
Homozygous recessive: Color blind/haemophilia
For males: (CHANCES OF SEX LINKAGE ARE MUCH HIGHER)
One recessive allele on the X chromosome: Color blind/haemophilia
One dominant allele on the X chromosome: Normal


4.3.12 Pedigree charts
1) If the disease is caused by dominant allele, the number of patients in every generation will be
at least 1.
2) If the disease is caused by a recessive allele, it tends to skip a few generations.

4.4 Genetic engineering and biotechnology
4.4.1 Polymerase chain reaction (PCR)
Purpose: Produce a large amount of specific target of DNA
Problem solved: Only a small quantity of DNA available for testing
How does it work in thermal cycler?
1) Denaturation DNA heated to separate into 2 strands
2) Annealing DNA primers attach to opposite ends of the target sequence
3) Elongation Heat-tolerant DNA polymerase taq copies the strands
Number of copies yield per cycle = 2
n
, where n=1,2,3.