UNIT 5 : GENETIC

THEME: MAINTENANCE AND CONTINUITY OF LIFE

Learning Area:
5.1 Cell Division
5.2 Inheritance
5.3 Mutation
5.4 Genetic Engineering Technology
5.5 Variation

5.1 Cell Division

Gene, deoxyribonucleic acid (DNA), and chromosomes in the nucleus

1. The human body contains billions of cells and controlled by its nucleus.
2. In nucleus of a cell, there are contains long, threadlike strands called chromosomes.
3. Chromosomes are made up of deoxyribonucleic acid (DNA) and genetic material called genes.
4. Genes are units of inheritance that determine the characteristics of an individual.
5. Deoxyribonucleic acid or DNA is made up of basic units known as nucleotides. Each of
nucleotide consists of three components. DNA is made up of two twisted antiparallel
polynucleotide chains that form a double helix structure.

The structures of DNA, gene and chromosomes

6. Organisms in same species have the same number of chromosomes in their nucleus cell.
Organisms of the different species have different number of chromosomes in their cells.
7. Each human cell has 46 chromosomes (equal to 23 pairs of chromosomes).
8. Chromosomes exist in pairs, so do genes and each pair of genes control one characteristics of an
individual.
9. The homologous chromosome is a paired chromosome. The human homologous chromosome
sequence is called a karyotype.

10. The chromosomes in human cells are divided into two: -

a. Autosomes
- Carries genes that control human characteristics
- For examples; ability to roll the tongue, earlobe, eye colour, skin pigments etc.

b. Sex chromosomes
- Carry genes that determine gender
- Comprises the sex chromosome XY for male and the sex chromosome XX for female.

Cell division
1. The reproduction and growth processes of organisms involve cell division.
2. There are two types of cell division;
A) Mitosis and
B) Meiosis
A) Mitosis
 Mitosis is a process by which a cell divides into two identical cells.
 The new cells formed have the same number and kind of chromosomes as the parent cell.
 Mitosis occurs in somatic cells (body cells).
 For plants, mitosis occurs at the tip of the root and shoots.
 The stages of mitosis are shown in the figure below.

The diagram shows phases of mitosis

 Stage of Mitosis Explanation
Interphase  Chromosomes looks thread-like long, thin and tangle.
Prophase  Chromosomes become shorten and flatten
 Replication of chromosomes occurs
 Each chromosome made up of twins chromatid which are joined
at the centromere.
 The nuclear membrane disappears.
Metaphase  Spindle fibres form.
 Chromosomes lined up along the equatorial plane.
Anaphase  Centromere separate
 The pair of chromatids starts to separate. They move to the
opposite poles to form two groups of chromosomes.
 Cytoplasm begin to divide
Telophase  Spindle fibres disappear
 The new nuclear membranes are formed
 Two daughter cells are produces
Description of stages in mitosis

The importance of mitosis

1. Mitosis provides new cells for growth.

2. Mitosis produces new cells for replacing worn out or dead cells.
3. Enables asexual reproduction to occur.
4. Ensures that the daughter cells have the same characteristics as the parent cell. This happens
because both daughter and parent cells have the same genetic material.

B) Meiosis
 Meiosis is the process to produce gametes (sex cell).
 One parent cell will produce 4 daughter cells.
 The number of chromosome in each daughter cell is half of the number of chromosomes of
the parent cells.
 Meiosis occurs only in the reproductive organs i.e. testis and ovary in animal, while for plants
occur in the anther and ovary.
 Meiosis causes variation because crossing over occurs. Crossing over is a process of
exchange of genetic material among chromatids.
 Meiosis can be divided into two main stages:
a. First stage (Meiosis I) results in the separation of homologous chromosomes.
b. Second stage (Meiosis II) leads to the separation of chromatids.
The diagram shows phases of meiosis
 Stage of Mitosis Explanation
Interphase  Chromosomes looks thread-like long, thin and tangle.
Meiosis I
Prophase I  Chromosomes become shorten and flatten
 Each chromosome made up of twins chromatid which are joined
at the centromere.
 Replication and crossing over in chromatids occurs
 The nuclear membrane disappears.
Metaphase I  Spindle fibres form.
 Chromosomes lined up along the equatorial plane.
Anaphase I  Centromere separate
 The pair of chromatids starts to separate. They move to the
opposite poles to form two groups of chromosomes.
 Cytoplasm begin to divide
Telophase I  Spindle fibres disappear
 The new nuclear membranes are formed
 Two daughter cells are produces
Meiosis II  The nuclear membrane disappears
Prophase II  Spindle fibres begin to form
Metaphase  Chromosomes lined up along the equatorial plane.
II
Anaphase II  Centromere separate
 Chromatids separate and move to the opposite poles
Telophase II  Spindle fibres disappear
 The nuclear membranes are formed again
 Four daughter cells are formed which each have half of the
number chromosomes of the parent cell
Description of stages in meiosis

The importance of meiosis

a. It produces gametes for the purpose of fertilisation in sexual reproduction.
b. Each gamete contains only half the number of chromosomes (haploid, n). During fertilization,
the male (n) and female (n) gametes will combine to form a zygote (diploid, 2n).
c. During meiosis, crossing over occurs. Crossing over is the process of exchange of genetic
material which occurs in chromatids when the homologous chromosome is paired. This
results in variations in species.
Compare and contrast mitosis and meiosis

 Similarities of mitosis and meiosis

1. New cells are produced
2. Chromosomes replication takes place
3. Cell division occurs

 Differences of mitosis and meiosis

Mitosis Differences Meiosis

In somatic cells Place of In reproductive organs (testis and
occurrence (in ovaries)
animals)
Tip of the root and shoot Place of Anther and ovary
occurrence (in
plants)
Parent cell divides once Number of cell Parent cell divides twice
division
Two Number of Four
daughter cells
Same Number of Half the number of the chromosomes
chromosomes in
daughter cells
The daughter cells have identical Genetic content in The daughter cells have different
genetic content as the parent cell daughter cells genetic content as the parent cell and
with each other
Does not occur Crossing-over Occurs
Occurs Replication Occurs during first cell division only
process
Occurs once Number of Occurs twice
cytoplasm division
5.2 Inheritance

Inheritance in human

Genes, dominant and recessive alleles, carrier and people with gene disorder diseases

1. Genes are segments of DNA that determine the characteristics of an organism.

2. Alleles are a pair of genes located in the same locus. Alleles are found either in dominant or
recessive forms.
3. The dominant allele
a. Will shows the characteristics it controls when pairing with dominant or recessive allele.
b. The dominant allele is represented in uppercase. For example, "T" represents high.
4. The recessive allele
a. Will shows the characteristics it controls when paired with recessive alleles only.
b. Recessive allele are represented by lowercase letters. For example, "t" represents short.

Examples of dominant and recessive alleles on chromosomes

5. We inherit two copies of the gene, from the father and mother for each trait.
6. Capital letters A, B, C and D represent dominant alleles and lowercase letters a, b, c and d
represent recessive alleles.
7. A pair of dominant alleles forms the dominant homozygote. For example DD
8. A pair of different alleles forms heterozygotes. For example Aa, Bb.
9. A pair of recessive alleles forms a recessive homozygote. For example cc.
10. Examples of the dominant traits and recessive traits of the human pad are as follows: -
 CHARACTERISTICS DOMINANT TRAIT RECESSIVE TRAIT
Ability to roll the tongue Can roll the tongue Cannot roll the tongue
Type of earlobe Free earlobe Attached earlobe
Type of eye colour Black Blue
Type of skin pigment Normal Albino

Inheritance mechanisms

1. Genetics is an area of research on inheritance.

2. The first person to discover the mechanism of inheritance was Gregor Mendel (1822-1884) who
also known as the "Father of Genetics".
3. The studies of Gregory Mendel on the pea plant can explain trait inheritance in organisms.
4. Gregor Mendel crossbred tall pea plants (TT), which were pure breed with short pea plants (tt),
which were also pure breed.
5. As a result, he found that all pea plants in the first generation were tall. The organism in first
generation produced by a crossbred is called first filial generation (F1).
6. In the experiment, trait inheritance of height (tall or short) was studied.
7. Therefore, the inheritance is called monohybrid cross.
8. Monohybrid cross is a study of one characteristic at a time.

Schematic diagram of monohybrid crossing for height

9. Then, the tall pea plants in the first generation (F1) were then crossbred amongst them and found
that three quarters of the pea plant in the second generation (F2) were tall and one quarter of them
are short.
10. Crossbred of first generation (F1) in the same generation will form a new generation known as the
second filial generation (F2).

Schematic diagram of monohybrid crossing of the second filial generation for height

11. Genotype refers to the genetic content of an organism.

12. Phenotype refers to the physical appearance, which can be seen in an organism.
13. The phenotype ratio refers to the probability ratio for a physical trait in the child’s phenotype.

Inheritance of trait in human

1. Inheritance of traits in humans can be explained by inheriting of characteristic from Mendel's

experiments.
2. The traits inherited by a child depend on the genes passed on by his or her parents.
3. For example, if a right-handed man (Kk) marries a left-handed woman (kk), the probability of
obtaining a left-handed child is 1:1 or 50%.
Keys:
K= dominant gene (right-handed)
k= recessive gene (left-handed)
 Schematic diagram of the inheritance of left-handed

Gender determination of an offspring

1. During meiosis, female’s ovaries produce one type of ovum only i.e. 22+X while male’s testis
produces two types of sperms i.e. 22+X and 22+Y.
2. The type of sperm that fertilises the ovum determines sex of a baby.
a. If a sperm (22+X) fertilises an ovum (22 + X), the zygote formed will have (44+XX)
chromosomes meaning that the baby is a girl.
b. If a sperm (22+Y) fertilises an ovum (22 + X), the zygote formed will have (44+XY)
chromosomes meaning that the baby is a boy.
3. The ratio of the chances of getting a male or female is 1:1 or 50%.

Schematic diagram of determining a child’s gender

5.3 Mutation

Definition of mutation

1. Mutation is the spontaneous change to the structure of genes or chromosomes of an organism that
can cause changes of characteristics to the offspring.
2. Children who inherit the genetically modified material will experience a change in behaviour.
3. The effects of mutation will be inherited by one generation to another.

Types of mutation

1. There are two types of mutation: -

i. Chromosome mutations- such as Down Syndrome, Turner Syndrome and Klinefelter Syndrome
ii. Genetic mutations - such as colour blindness, sickle cell anaemia, thalassemia, haemophilia,
albinism

Chromosome mutation

1. Occurs when there are changes in the structure or number of chromosomes

2. This is due to interruption during the cell division process.
3. Examples of chromosome mutations are as follows: -

Down syndrome (Extra chromosome number 21)

 Occurs when there is one additional chromosome in chromosome number 21.
 This person has 47 chromosomes compared to normal individuals (46 chromosomes).
 Characteristics of individuals: -
o Slanting eyes
o Physical and mental retardation
o Short neck and fingers
o Open mouth

Karyotype of Down Syndrome Individual with Down Syndrome’s

Turner Syndrome (XO)
 Lack of one sex chromosome.
 This person has only 45 chromosomes (44 + XO) compared to normal individuals (46
chromosomes).
 Characteristics of individuals: -
o Female
o Secondary sex development does not develop.
o Infertile
o Short stature
o No menstrual cycle

Karyotype of Turner Syndrome Individual with Turner Syndrome

Klinefelter Syndrome (XXY)

 Excess of one sex chromosome.
 This person has 47 chromosomes (44 + XXY) compared to normal individuals (46
chromosomes).
 Characteristics of individuals: -
o Male but have characteristics like female
o Has breast
o Small testicles
o Infertile

Karyotype of Klinefelter Syndrome Individual with Klinefelter Syndrome

Gene mutation

1. Occurs due to changes in gene structure.

2. This will cause a change in the characteristics that controlled by the gene.
3. Examples of gene mutations are as follows: -

Examples of gene mutation Explanation

Colour-blindness  Is a sex-linked disease that is controlled
by the recessive gene on the X
chromosomes.
 This person cannot differentiate between
red and green.
 Usually occurs in men.

Colour-blindness cannot differentiate between red

and green
Sickle-cell anaemia  It is a type of disease caused by changes
in the gene that produces hemoglobin.
 Red blood cell has a sickle-shaped and
this causes the transport efficiency of
oxygen to be affected.
 The disease is caused by a recessive gene
on autosomes.

Normal red blood cells and sickle-shaped red blood

cell
Talasemia  Is a genetic disease.
 Caused by the mutation in genes that
controls hemoglobin production.
 As a result, red blood cells are small and
the lifespan of the cells is shorter.
 This may cause the person to have
serious deficiency in red blood cells.
 Examples of gene mutation Explanation
Haemophilia  Changes in genes that producing blood
clotting factor.
 Is a sex-linked disease that is controlled
by the recessive gene on the X
chromosome.
 This person will experience difficulty in
blood clotting. And if the injury occurs
there will be continuous bleeding and can
be fatal if the condition persists.

Normal clotting Inability to form clots

Albinism  Caused by the changes in the gene that
controls skin color.
 Recessive genes in autosomes produce
melamine pigments on the skin.
 This person has white skin and hair.

Albino individual

Factors that cause gene mutation and chromosomal mutation

1. Mutations can occur naturally or are caused by external factors.

2. The agent that causes the mutation is called the mutagens.
3. The factors that cause the mutation are as follows: -
a. Naturally – occur during cell division process
b. Radioactive radiation – such as X-rays and ultraviolet rays
c. Chemicals – such as pesticides, carcinogens in cigarette smoke and drugs. Also available
in some preservatives, dyes and artificial sweeteners in food.
d. Pregnancy at a late age
Gene disorder Disease

1. Most of the genes that control a trait in the allele are found in autosomes.
2. However, there are also genes that cause hereditary diseases on the sex chromosome. These genes
are called sex-linked genes.
3. An example of hereditary diseases caused by sex-linked genes is hemophilia.
4. The gene is normally passed down by a female to her children because the female contains only
the X chromosome.
5. This is because some of the recessive genes that cause the inherited disease only exist on the X
chromosome and do not exist on the Y chromosome.
6. A female can be a carrier only if she contains only one recessive allele. For example, female
carrier’s haemophilia has XHXh genotype.
7. A female may have the disease if she has both recessive alleles. For example women with
hemophilia have XhXh genotype.
8. Male have X and Y chromosomes.
9. Therefore a man will have hemophilia if he has a recessive allele. For example men with
hemophilia have XhY genotype.

Schematic diagram for inheritance of haemophilia if the father is normal and the mother is carrier
10. Based on the schematic diagram, let’s say XH is the dominant allele (normal) and Xh is the
recessive allele (hemophilia)
11. If a normal (father) male marries the female (mother) the carrier, then the probability of having a
child is: -
a. Normal daughter is ¼ or 25%
b. Carrier daughter is ¼ or 25%
c. Normal son is ¼ or 25%
d. Hemophilia son is ¼ or 25%.

Schematic diagram for inheritance of haemophilia if the father is normal and the mother is a
haemophiliac

12. Based on the schematic diagram, let’s say XH is the dominant allele (normal) and Xh is the
recessive allele (hemophilia)
13. If a normal (father) male marries the female (mother) the hemophilia, then the probability of
having a child is: -
a. Normal daughter is 0.
b. Carrier daughter is ½ or 50%.
c. Normal son is 0.
d. Hemophilia son is ½ or 50%.
The screening method of the disease

Screening method to detect gene disorder diseases are using the karyotypes and amniocentesis.

1. Karyotyping

 Karyotype analysis is used to identify and detect possible abnormalities in the number and
structure of chromosomes in order to detect any gene disorder disease.
 In the karyotyping, cells extracted from the individual will be cultured in culture media for several
days. Chromosomes are obtained after passing through a series of harvests. Then chromosomes
are stained with specific staining method to produce a stripe pattern. The metaphase spreads is
selected because the chromosome is most visible and then the chromosome is analyzed based on
the size and pattern of the standard ideogram strip using software analyzer.

Steps in karyotyping
2. Amniocentesis

 A process in which amnion fluid containing fetal cells is extracted using a needle inserted into the
uterus, to detect abnormalities in the developing fetus.
 Usually in the 15th to 20th week of pregnancy.

A needle
inserted
Amniotic fluid is
carefully Amniotic fluid The separated
centrifuged to
through containing fetal fetal cells will be
separate
mother's cells is used to obtain
amniotc fluid
abdomen extracted the karyotype
and fetal cells
penetrating the
wall of uterus

Steps in amniocentesis
Genetic research application to increase living quality

Forensic science

 Forensic science is a science area that conducts research on crime research using knowledge such
as science and technology.
 Forensic scientists collect, preserve, and analyse scientific evidence during the course of an
investigation. The forensic scientists will travel to the scene of the crime to collect the evidence
themselves or from someone that involved, while others occupy a laboratory test and performing
analysis on evidences, and then prepare the report.
 Also, forensic scientists can testify as witnesses in criminal cases in the court

Forensic scientist at crime scene

Forensic scientist in the lab

Gene therapy

 Gene therapy is an experimental technique that uses genes to treat or prevent disease.
 Examples of the diseases that being researched in gene therapy are cystic fibrosis, sickle cell
anaemia, haemophilia and muscular dystrophy.
 This technique is done by inserting normal genes into the patient's cells to replace the abnormal or
defective gene.
 There are two types of gene therapy i.e. somatic gene therapy and germ line therapy.

The process of gene therapy

Genetic genealogy

 Genetic Genealogy is the use of DNA test to trace biological relationships between individuals
such as family pedigree.
 Also to determine the type of genetic relationships between individuals such as hierarchy and
ancestry, and family history.
5.4 Genetic Engineering Technology

Definition of Genetic Engineering

1. Genetic engineering is the application of the genetic modification of an organism.

2. It involves the replacement, transfer or modification of genes from one organism to another.
3. It started around 1971-1973 with the aim of obtaining the desired characteristics.
4. Genetic engineering includes: -
i. Recombinant DNA technology
ii. Genetically Modified Organism (GMO)
iii. Gene therapy

Recombinant DNA technology

1. It is a technology that combines two different characteristics to get a new genetic characteristics
2. For example, production of human insulin using bacteria.
3. Human genes are transferred into bacterial cells so that they can produce insulin.

The production of insulin through recombinant DNA technology

Genetically Modified Organism (GMO)

1. Genetic engineering is applied to crops and livestock production to produce high quality
agricultural products.
2. Organisms that genetically modified also known as genetically modified organisms (GMOs).
3. In most studies, GMOs have been modified with DNA from other organisms, either from bacteria,
plants, viruses or animals by combining genes from two different species.
4. For example: -
i. Soybeans are modified to produce natural pesticides and this causes soybeans not to be
sprayed with pesticides. This can reduce environmental pollution.
ii. Other examples of crops that have been genetically modified are corn, papaya, rice, potatoes
and tomatoes.

5. The characteristics of crops produced through this technology are: -

i. High quality
ii. Fruit more bigger.
iii. High nutritional value
iv. High resistance to pests and diseases

Maize Tomatoes

Soybean Potatoes

Examples of GMO crops

Effects of genetic engineering technology in life

The advantages of genetic engineering

1. Can identify and treat infectious diseases in early stage.
2. Can produce better quality crops and livestock.
3. Can produce more nutritious foods.
4. High production and more varieties in food crops.
5. Can treat human diseases by producing insulin and enzymes from bacteria.

The disadvantages of genetic engineering

1. Genetically modified foods cause allergies and other side effects such as mutations and etc.
2. Genetic research has led to the extinction of some of the original species as it has been replaced
by a new species.
3. Produce organisms that are resistant to diseases and pesticides.
4. Manufacture of biological weapons that can be detrimental to human health and well-being.

Etiquette in genetic engineering technology

1. Genetic research has contributed many benefits to mankind.

2. However the misuse of knowledge in the field of genetics can cause harm and endanger life. Such
as, the microorganism, which if released into the environment can cause death of animals and
plants.
3. A code ethics need to be established and adhered so that the new technology and products are safe
and not morally and religiously wrong.
4. To ensure there is no misuse in the technology of scientific research, genetic research should be
carried out based on the guideline on the code of ethics in genetic engineering.
5. Therefore, scientists and researchers need to follow a code of ethics while conducting research,
and to use the knowledge of genetic research wisely in order to contribute for good of the human
beings.
5.5 Variation

1. Variation is the differences in characteristics, which exists among individuals of the same species.
2. Examples of variations commonly seen in humans are height, skin color, and hair colour.
3. There are two types of variation, i.e. continuous variation and discontinuous variation.

Continuous variation

1. Continuous variation refers to characteristic which do not show obvious variation in a trait among
individuals of the same species.
2. This variation has the continuous intermediate range between two extremes characteristics.
3. Examples of continuous variation are:-
a) Height
b) Body weight
c) Intelligence
d) Skin colour
e) Width of shoulder
f) Length of sole
4. The characteristic of continuous variation is quantitave and can be measured.
5. The continuous variation can be represented by the normal distribution curves as in the following
graph: -
4. Factors affecting continuous variation include: -
 Genetics
 Environment

Discontinuous variation

1. Discontinuous variation shows obvious and definite variation in a trait among individuals of the
same species.
2. Examples of discontinuous variation:-
a) Blood group
b) Fingerprint
c) Ability to roll the tongue
d) Ear lobe
e) Left-handedness
f) Presence of dimples
6. The graph of discontinuous variation is discrete and can be represented by a bar chart as follows: -
variation can be shown by a bar chart.

Number of people

Blood group

7. Factors affecting discontinuous variation are genetic factors. Therefore the characteristics of this
variation can be passed on to the next generation.
Factors that Cause Variation

1. Genetic factors
a) This factor determines the variation inherited from the parent.
b) Examples of blood groups and eye colour.
c) Genetic changes caused by: -
i. During the meiosis process – a crossing over occurs and causes the exchange of genetic
material. This will create a new genetic combination.
ii. Chromosome mutations and gene mutations - genetic information changes. This will
create new characteristics.
iii. Random fertilization between gametes – produce different genotype combinations.
iv. Free chromosome organization - causing gametes to have different genetic information.

2. Environmental factors
a) These factors produce variations caused by nutrition, and exposure to sunlight, climate and
weather.
b) For example, weight gain as a result of over eating, and the color of the skin turn dark when
exposed to sunlight.

Importance of variation

1. Variations enable us to distinguish individuals in the same species and increase the diversity in
certain species.
2. Variations help some animals change their skin color to protect themselves.
3. High resistance to pests and pathogens in plants allows the plant to grow and reproduce quickly.
4. Variation can improve the quality and quantity of agricultural product - The desired
characteristics can be produced in animals and plants through genetic engineering and selective
breeding.