CHAPTER 5: GENETICS

5.1 Cell Division

Gene, Deoxyribonucleic Acid (DNA) and Chromosomes

1. Nucleus of animals or plants contain chromosomes which are long molecules of deoxyribonucleic
acid (DNA) which is made up of genes.

2. Chromosomes:
a) Chromosomes are fine thread-like structures which contain nucleic acids and protein.
b) Long and spiral structures located in the nucleus.
c) Contains a long DNA molecule.
d) Human body cell contains 46 chromosomes (23 pairs)
e) A pair of chromosomes is known as homologous chromosomes.
f) The human homologous chromosomes can be arranged according to their shapes and sizes, the
arrangement is called karyotype.

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 g) Chromosomes can be divided into two autosomes and sex chromosomes.
h) Autosomes: first 22 pairs which control characteristics such as colour of the eyes, ability to
roll the tongue and the type of hair of human.
i) Sex chromosomes: 23rd pairs determine gender, whether male or female.
j) The sex chromosome in the female is made up of two X chromosomes (XX).
k) The sex chromosomes in male is made up of one X chromosome and one Y chromosome
(XY).

3. Deoxyribonucleic acid (DNA)

 Each chromosome is a polymer of DNA that is covered with protein and has a double helix
shaped DNA.

4. Gene
a) Genes are a part of DNA molecules in chromosomes which carry genetic or hereditary
information which determines the traits of an individual.
b) Examples :
Figure 5.7 Ability to roll the tongue

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Mitosis and Meiosis
- Two types of cell division that take place in cell.

Mitosis
1. Mitosis is a process of division of the parent cell which produces two identical daughter cells with
the same number of chromosomes and genetic content as the parent cell.
2. Occurs in the somatic cells (body cells) of animals and meristem cells of plants.
3. Functions are to replace the body dead or damaged cells and for body growth.
4. Mitosis occurs in all body cells except the reproductive cells (gametes).

Process Explanations
 Chromosomes shorten and become
visible.
 Two chromatids joined at the centromere.
 Spindle fibres begins to form.
 Nuclear membrane disintegrate.

 Chromosomes are arranged in an

equatorial plane.
 The spindle fibres are attached to the
centromere.

 Centromere splits into two, each sister

chromatid separates and moves towards
the opposite poles of the cell (polarisation)

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  Chromatids reach the opposite poles.
 Nuclear membrane and nucleolus are
formed again.
 Cytoplasm divides
 Two identical daughter cells are formed.

Meiosis
1. Meiosis is a process of division of parent cells to produce four daughter cells which have half the
number of chromosomes as their parent cell.
2. Happen in the reproductive organs to produce gametes.
3. Meiosis is divide into two stages of continuous cell division with the following phases:
a) Meiosis I : prophase I, metaphase I, anaphase I and telophase I
b) Meiosis II : prophase II, metaphase II, anaphase II and telophase II

Process Explanations
 Chromosomes thicken and become visible.
 Homologous chromosomes pair together.
 Crossing over occurs, to exchange of genetic
information.

Prophase I
 Chromosomes are arranged in an equatorial
Meiosis I plane.
 The spindle fibres are attached to the
centromere.

Metaphase I

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  Homologous chromosomes separate and move
towards the opposite poles of the cell.

Anaphase I
 Cytoplasm divides.

Telophase I
 Two non-identical daughter cells formed
 Meiosis I ends.

Interkinesis
 Spindle fibres begin to form.

Meiosis II

Prophase II

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  Chromosomes are arranged in an equatorial
plane.
 The spindle fibres are attached to the
centromere.

Metaphase II
 Centromere splits into two.
 The sister chromatids separate and move
towards the opposite poles of the cell
(polarisation)

Anaphase II
 Four non-identical daughter cells (gamete)
with 50% of the chromosomes of the parent
cell (haploids) are formed.
 Meiosis II ends

Telophase II

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Similarities and Differences between Mitosis and Meiosis

5.2 Inheritance

Inheritance in Humans

1. Inheritance in humans is the transmission of characteristics from one generation to the next
generation.
2. Characteristics are the factors that are inherited, for examples eye colour, type of earlobe and
blood group.
Characteristic Trait
Eye colour  Brown
 Blue
Earlobe  Attached
 Free
Blood group  A, B, AB, O
Type of hair  Straight
 Curly

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3. A pair of genes at the same locus or position in the homologous chromosomes will control one trait
of the organism.
4. Allele is a gene at a fixed genetic locus (or genetic location) on a chromosome.
5. Allele which control a certain characteristic can be in the form of dominant alleles or recessive alleles.

6. Dominant alleles is represented by capital letters while the recessive alleles is represented by small
letters.
7. Genotypes is the genetic information in an organism.
8. Phenotype is the physical characteristics shown in an organism.

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Inheritance Mechanism
1. The genotype of monohybrid crossing can be determined by schematic diagram.
2. Monohybrid cross is a study to investigate the inheritance of a single characteristic.

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5.3 Mutation

Types of Mutations

1. Mutation is a spontaneous and random change that takes place in the genes and chromosomes that
can cause changes of characteristics to the offspring.
2. Two types of mutations:
a) Chromosome mutation
b) Gene mutation

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Chromosome Mutation

- Occurs when there are changes in number or structure of the chromosome.

- Changes occur as a result of a defect during the cell division process.

a) Down syndrome (Extra chromosome number 21)

- There is an extra chromosome in chromosome number 21.
- Down syndrome person has 47 chromosomes compared to normal person (46 chromosomes)
- Characteristics: physical & mental retardation, short neck, slanted eyes and short stocky body.

b) Tuner syndrome (XO)

- Has less number of sex chromosomes
- Only have 45 chromosomes (44 + XO)
- Is a female who has a missing X chromosome.
- Will not undergo the development of secondary sexual characteristics of a female.

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 c) Klinefelter syndrome (XXY)
- Has more number of sex chromosomes
- Have 47 chromosomes (44 + XXY)
- Is a male with an extra chromosome X
- Has female characteristics such as breasts and small testis as well as sterile.

Gene Mutation

- Caused by chemical changes that occur to a gene.

- Causes changes in characteristics that are controlled by the gene.

a) Colour blindness
- Has mutant recessive genes on chromosome X.
- Unable to differentiate between red and green.
- This disease is controlled by a recessive gene on the X chromosome.
- Usually occur in males.

b) Sickle cell anaemia

- Caused by the spontaneous change that occur at the gene responsible for production of haemoglobin.
- Has an abnormal red blood cell shape that is sickle-shaped, affecting the transport of oxygen.
- This disease is caused by a recessive gene on the autosome.

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 c) Thalassemia
- Caused by the mutation of the gene that controls the production of haemoglobin.
- Has small red blood cells and the lifespan of the cell is shorter.
- This condition can cause severe blood deficiency.

d) Haemophilia
- Has difficulty in the clotting of his/her blood.
- This is because mutation has occurred at the gene producing the blood clotting factor.
- The person will lose blood continuously if wounded or injured.

Factors that Cause Gene Mutation and Chromosome Mutation

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Gene Disorder Disease

1. Gene disorder diseases are genetic diseases caused by mutant genes or mutant chromosomes that
are inherited by children from their parents.

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Screening Methods for Gene Disorder Diseases

- Can be detected by carrying out karyotyping and amniocentesis.

Karyotyping

1. Aim to test the number, size and shape of chromosomes in the nucleus of a cell. Any abnormalities
in chromosomes will cause problems in the development and growth of a person as well as body
function.

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Amniocentesis

1. It is a prenatal test that is carried out to identify abnormalities in foetal cells from the 15th to the 20th
week of pregnancy.
2. Position of foetus in the uterus is detected using the ultrasound technique before start of amniocentesis.

Genetic Research Application to Increase Living Quality

a) Agriculture
b) Medicine
c) Forensic science
d) Genealogy

Agriculture

1. Used in genetic food modification to obtain the following desired characteristics of crops and livestock:
- Crops and livestock that mature quickly
- Yield or products of crops and livestock that are high quantities and quality.
- Crops and livestock that have high resistance towards diseases and extreme weather changes.

Medicine
1. Bacteria and yeast cells are used to produce insulin normally produced by the pancreas in the human
body to be used in the treatment of diabetes mellitus.
2. Bacterial culture is used to produce protein that modulate the human immune system.
3. Used in cancer treatment and for protection of the body from bacteria and virus attacks.
4. The genetic content in sheep is modified to produce milk which contains protein to treat haemophilia.
5. Treatment of gene disorder diseases through gene therapy.
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Forensic Science

1. Carries out the study on crime investigation by identifying and confirming the chronology of an
incident based on scientific evidence obtained.
2. Important in the legal system in terms of preparing scientific based information through physical
evidence analysis.

Gene Therapy

1. A technique that is still at an experimental stage.

2. Aim to repair the mutated genes (abnormal/ defective)
3. Examples of diseases:
a) Haemophilia
b) Cancer
c) Cystic fibrosis
d) Huntington disease
e) Amyotrophic lateral sclerosis (ALS)

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5.4 Genetic Engineering Technonoly

Recombinant DNA Technology

-Genes which carry the desired characteristics are transferred from one organism into another organism.
Examples:

a) Medicine: Insulin production with the help of high reproductions rate of bacteria.

b) Genetically Modified Organism (GMO), are used to control desired characteristics:

 GMO plants are resistant to pests and herbicides, and withstand extreme weather conditions, and
can produce high yields of high nutritional value.
 GMO livestock have high immunity against diseases and parasites, higher growth rate, higher
yield with high nutritional value of milk and meat
 GMO bacteria can produce insulin, enzymes and medicine, decompose oil spills, reduce
pollution that caused by carbon and toxic substances, decompose plastic wastes, and produce fuel
such as biodiesel and butane

The effects of genetic engineering technology in life

Advantages Disadvantages
GMO produced new species Extinction of original species
Hereditary diseases are identified and May suffer from side effects and allergy
cured

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 Medical substances can be produced in
large amount
High quantities and quality of
agricultural products. This solves
starvation and food shortage problems
Abuse of medical substances such as
antibiotics resulting in diseases are
difficult to be cured.
Highly increase the world population
rate. this lead to social ,economic, health
and quality of life globally.

5.5 Variation

1. Variation refers to the difference in characteristics between individuals from the same species.
2. There are 2 types of variation : continuous variation and discontinuous variation

Continuous variation

1. It is a variation that does not show significant differences in characteristics.

2. It is a variable and can be measured
3. Examples: Height, mass, intelligence, skin colour, hair colour
4. It can be represented by histogram or normal distribution curve (red line)

Discontinuous variation
1. It shows significant differences in characteristics between individuals in the same population.
2. It is a fixed, permanent, cannot be measured and are discrete.
3. Examples: earlobe, blood group, fingerprint, ability to roll tongue
4. It can be represented by bar chart

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Factors that cause variation:

Importance of variation
1. To enable organism adapt themselves to environment
2. Able to withstand and survive with the changes in the environment
3. To easily differentiate and recognize each individual in the same species
4. Use in genetic engineering for selective breeding

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