Chapter 3

HEREDITY AND VARIATION

3.1 Cell division

All living organisms grow and reproduce & are

made up of cells
Cells reproduce by dividing and passing on their
genes to daughter cells
Each cell has its own nucleus which controls the
cells activities through the genetic material, DNA
which acts as a set of instruction or code for life

What is genes?
Genes are sections of DNA that code for the production

of protein and are arranged along the chromosomes

Carry the inherited characteristics of a person
Genes occurs in pairs, therefore each inherited
characteristics is carried by two genes
One gene from each pair comes from the father and the
mother
Example of inherited characteristics carried by genes
are:
- Colour of the eyes
- Pattern of finger prints
- Type of hair
- Blood group
- Intelligence

Deoxyribonucleic acids
(DNA)
Is a double helix, made up of a series of genes to

encode genetic information

This determine the individual characteristics of an
organism
All the information in DNA is transmitted in the
form of a genetic code
Should any information not be followed, the baby
will be born with physical or mental defects
DNA molecule is very complicated and resembles
a twisted ladder or staircase

Chromosomes
Is a thread-like structure found in the nucleus of a

cell
Chromosome and the genes on them are
composed of DNA
It exist in pair and are identicalhomologous
A pair of chromosomes has genes arranged in the
same way. As a result the genes also exist in pairs
Human has two sets of chromosomes in the
body(one set from the father and another set from
the mother)

Mitosis

Occur in somatic cells all cells body except reproductive

cells
Is the type of cell division that produces genetically
identical cells
During mitosis, DNA replicates in the parent cell, which
divides to produce two new cells, each containing an
exact copy of the DNA as in the parent cell
This allows growth of multicellular organism from
unicellular zygotes
Replacements of cells and repair of tissues is possible
through mitosis followed by cell division
Cells are constantly dying and being replaced by identical
cells
Is the basis of asexual reproductionthe production of
new individuals of a species by one parent organism

Mitosis
Mitosis is the type of cell division that

produces genetically identical cells

During mitosis, DNA replicates in the parent
cell, which divides to produce two new cells,
each containing an exact copy of the DNA as
in the parent cell
Cells produced are diploid (2n)
Replacement of cells and repair of tissues is
possible through mitosis (Ex: cell replacement
is rapid in the skin & in the lining of the gut
Is actively carried out at the ends of plant
shoots and roots

(a
)

Chromosomes thicken and shorten, and become

clearly visible
Each chromosome duplicates itself and forms
two chromatids attached at the centromere
The nuclear membrane dissapears

(b)

A fibrous spindle is formed between the chromosomes

Each chromosome is attached to a spindle by its

centromere
The chromosome arrange themselves at the equator of
the spindle

(c)

The centromere of each chromosome splits into two

The chromatids separate and move to opposite

poles.

(d
)
A nuclear membrane is formed around the

chromosomes at each pole

The cell begins to divide and form two daughter cells
Each daughter cell has the same number of
chromosomes as the parent cell
In a plant cell, the cytoplasm does not constrict.
Instead a new cell wall is developed across the
cytoplasm

Importance of mitosis
Important for the following reasons:
(a)Growth
(b)Replacing old or damaged cells
Enables organisms to reproduce

themselves (Ex: by asexual reproduction;

binary fission in amoeba)
Ensures that the new cells produced have
the same number of chromosomes as the
parent cells

Meiosis
Meiosis is the process by which a nucleus divides

by two divisions into four nuclei, each containing

half the number of chromosome of the mother cell
Resulting nuclei are haploid (n)
The cells produced are genetically different to the
parent cell and to each other
Occurs in 2 stages that is meiosis 1 and meiosis 2
Produces genetic variation (caused by crossing
over between homologous chromosome)
In animals, meiosis occurs in testes and ovaries,
whereas in plants, it occurs in the anthers and
ovaries

Importance of meiosis
1. Production of gamete the only process that
2.

3.

4.

*
1.
2.

produces gametes
Reduction in chromosome number ensures that
each gamete has only half the number of
chromosomes of the parent cell
Maintenance of chromosome number in somatic cells
the somatic cells have their number of
chromosomes maintained
Production of variation causes genetic variation in
the descendants(can produce individuals who do not
resemble their parents closely
Variation occurs in TWO ways:
Different combination of chromosomes
Crossing over

Comparing and contrasting

mitosis with meiosis
SIMILARITIES of MITOSIS and MEIOSIS:

- Both are processes of cell division

- In each process, duplication of chromosomes
occurs once

DIFFERENCES OF MITOSIS AND MEIOSIS

MITOSIS
To produce new cells for
growth and repair of
damaged tissues

DIFFERENCE
S
Aim of
process

Somatic cells (non

reproductive cells)

Type of cell
involved

Two daughter cells

Product

Nucleus of parent cells

divides once

Division of
nucleus

MEIOSIS
To produce gametes
(reproductive cells)
Reproductive cells which
produce gametes
Four gametes
Nucleus of parent cell divides
twice

Duplication of
chromosomes takes place

Duplication Duplication of chromosomes

of
takes place in the first cell
chromosome division
s

Same as in parent cell,46

Number of Half the number of those in

chromosome the parent cell,23
s in
daughter
cells

Does not occur

Crossing

Occurs when the

Which of the following is the simplest unit of

inheritance?
Exercises
: CELL DIVISION
A. Nucleus
B. Chromatid
C. Chromosome
D. Gene
1.

2. How many chromosomes are present in the

nucleus of a human cheek cell?
A. 23
B. 24
C. 46
D. 48

3. How many chromosomes can be found in the

nucleus of a human ovum?
A. 23
B. 24
C. 46
D.48
4. What is the importance of mitosis in somatic cells?
A. It maintains the number of chromosomes in all new
cells which are produced
B. It occurs in all organs of the body so long as the
cells are actively growing
C. It prevents the body from being reduced in size due
to the death of old cells
D.It produces new cells which will support the cellular
activities of the old cells.

5. What is the importance of meiosis in living organisms?

A. It maintains the number of chromosomes of zygotes
produced from fusion of sex cells
B. It occurs only in parts of the living organism which are
actively growing
C. It replaces old cells which are no longer able to carry
out their cellular functions
D.It repairs damaged tissue in the body due to injury or
disease
6. Where is DNA found in a living organism?
A. Cell membrane
B. Cytoplasm
C. Nucleus
D.Cell wall

7. What is mitosis and meiosis?

8. Describe the process of mitosis.
9. Describe the process of meiosis
10. What is the importance of mitosis and
meiosis?

3.2 The principles and

mechanism of inheritance

The study of inherited characteristic is called

heredity
Genes carry the inherited characteristics of a
person
Each characteristic of a person is controlled by a
pair of genes
A gene for a certain characteristic may be a
dominant gene or a recessive gene

Dominant genes and

A dominant gene is powerful and can mask the
recessive
genes
effect of a less powerful or recessive gene in a
pair
A recessive gene is weak and cannot show its
effect if it is paired with a dominant gene
Each pair of genes is represented by two letters,
a capital letter used for a dominant gene and a
small letter for a recessive gene

Monohybrid inheritance
Mendel chose true-breeding varieties of the

garden pea as the parents

Mendel crossed a tall plant with a dwarf plant.
Progeny from this cross, called the F1
generation (first filial generation) were all tall
All the F1 plants were then self-pollinated to
obtain the F2 generation (second filial
generation)
The F2 generation included both tall and dwarf
plants in the ratio of 3 tall to 1 dwarf(phenotype
ratio)

It is shown that only the dominant(strong) trait

appeared in the F1 generation.

The recessive (weak) trait is blocked by the
strong trait from expressing itself and is
therefore hidden in the F1 generation

The mechanism of trait

The character of height is determined by two
inheritance
contrasting traits, tall and dwarf.
The gene for tall is dominant while the gene for dwarf

is recessive
If the gene for tall is represented by T and the gene
for dwarf is represented by t, there will be three
genetic combinations(genotype) for plant height
Genotype is the term used to describe the genetic
make-up or constitution of a person. It includes the
genes inherited from both parents,whether they are
dominant or recessive
Phenotype is the physical traits such as colour of the
eyes, height and ect..

3 possible combination are:

Phenotype

Genotype

Tall (pure strain)

TT (homozygous
dominant)

Tall (monohybrid)

Tt (heterozygous)

Dwarf (pure strain)

tt (homozygous
recessive)

Pure bred crossed with

pure bred

Dominant traits and recessive

traits in human
Dominant traits

Recessive traits

Right handed

Left handed

Tall

Short

Black/Curly hair

Brown/Straight hair

Black/Brown eyes

Blue eyes

With ear lobe

Without ear lobe

Can roll the tongue

Cannot roll the tongue

Has normal vision

Colour blind

Has dimples

Has no dimple

Skin is pigmented

Skin has no
pigments(albino)

Long eye lashes

Short eye lashes

The principles and mechanism of

inheritance
For questions 1 to 4 , use the information given below:
The brown eyed trait, B, is dominant over
the blue eyed trait, b

1. Which of the following crosses is likely to produce the ratio 3

brown eyed: 1 blue eyed?
A. BB x bb
B. Bb x bb
C. BB x Bb
D.Bb x Bb
2. Which of the following crosses is likely to produce the ratio 1
brown eyed: 1 blue eyed?
A. BB x bb
B. Bb x bb
C. BB x Bb
D. Bb x Bb

3. Which of the following crosses is likely to

produce ALL brown eyed individuals?
A. BB x bb
B. Bb x bb
C. bb x bb
D Bb x Bb
4. Which of the following crosses is likely to
produce all blue eyed individuals?
A. BB x bb
B. Bb x bb
C. bb x bb
D. Bb x Bb

For questions no 5 to 8, refer to the information

below:
A girl has curly hair and dimples on her face. Her
mother has straight hair and no dimples on her
face. Her father has curly hair and has dimples on
his face. Her mother is homozygous for both traits.
Assume that the two traits are inherited
independently of each other

5. Which of the traits are recessive?

A.Straight hair, no dimples
B.Straight hair, dimples
C.Curly hair, dimples
D.Curly hair, no dimples

6. If the curly hair traits is represented by the letter

C and dimples by the letter D, what is the
mothers genotype for the two traits?
A.CC and DD
B.cc and Dd
C.cc and dd
D.Cc and Dd
7. If the curly hair is represented by the letter C and
dimples by the letter D, which of the following is
the possible genotype of the girlss father?
A.cc and dd
B.CC and Dd
C.cc and DD
D.Cc and dd

8. What is the genotype of the girl?

A.cc and dd
B.CC and Dd
C.Cc and DD
D.Cc and Dd

3.3 Sex Determination and

the occurrence of twins in
human
beings
Sex
Chromosome

Autosomes are chromosomes which are not

sex chromosomes
The characteristic features of a person are
determined by the autosomes
The sex of a person is determined by the sex
chromosome
In a woman, the sex chromosomes are a pair
of identical chromosomes called X
chromosomes
In a man, the sex chromosomes consists of
one X chromosome and a smaller Y

Therefore, chromosomes in female can be

written as 44+XX while male as 44+XY

Mechanism of Sex
Determination
Fathers sperm determine the sex of the baby
If the baby inherits Y chromosome from its father

boy
If the baby inherits X chromosome from its
fathergirl
THUS, the sex of the baby depends on which
sperm fertilizes the egg cell(ovum).

Parent Phenotype:
Female
Parent Genotype:
44+XX

22+
X

Male
44+XY
22+Y

22+X

22+X

Parents gametes:

Offspring genotype : 44+XX

44+XY
Offspring phenotype: Female
Male
Male
Ratio:

44+XX

44+XY

Female
(1 girl : 1 boy)

Identical and nonidentical twins

(1) Identical twins

When an ovum is fertilized by a sperm, a

zygote is formed
The zygote then divides into 2 separate cells in
the womb producing 2 embryos identical
twins
Identical twins are two normal, genetically
identical individuals of the same sex and share
a common placenta during developmental
stage

(2) Non-Identical twins

Some women may produce two ova at the same
time.
When the two different ova are fertilized at the
same time by two different sperms, two
zygotes are formed non-identical
twins(fraternal twins)
Non-identical twins are genetically different
individuals, can may be of the same sex or
different sex and each have their own placenta
during developmental stage

Comparing and contrasting

identical twins with non1.
SIMILARITIES:
identical
twins
Two foetuses develop in the uterus at the same

time
Two babies are born at the same time

2. Differences
Identical twins

Differences

Non-Identical twins

One ovum and one sperm

No of
gametes
involved

Two ova and two sperms

One ovum is fertilized and

one zygote is formed

Fertilization

Two ova are fertilized and

two zygotes are formed

The single zygote divides into

two zygotes

Division of
zygote
formed

The two zygotes formed do

not divide

The two foetuses share one

placenta

Number of
placentas

The two foetuses have two

separate placentas

Have identical chromosomes

and genes

Chromosom
es and
genes

Have different
chromosomes and genes

Have the same sex-both boys

or both girls

Sex of twins The twins may have the

same sex or opposite
sexes

The twins have similar

characteristic feature

Characterist The twins have different

ic features
characteristic features

Siamese twins
Sometimes a zygote can not divides into two

completely, so the two zygotes are still linked to

each other
The linked zygote develop into foetuses and are
born as twins joined together in some parts.
Siamese twins are identical twins that are
formed when the two embryos do not separate
completely during the developmental stage and
are attached to one another

Exercises :Sex determination

and the occurrence of twins
1.
are autosomes?
in What
human
beings
2. Name the chromosome which determines

that zygote will develop into a male

3. Why is the Y-chromosome smaller than the Xchromosome?
4. Why do identical twins have identical
features?
5. State the possible sex of non-identical twins.

3.4 Mutation
Is a change in the amount or the chemical

structure of DNA
Can occur spontaneously or induced by
substances called mutagens
The new genetic material produced are called
mutants
Mutation occur in gamete cell can be inherited
Mutation occur in somatic cell can only be
inherited by daughter cells produced by mitosis

Types of mutation
1. Chromosomal mutation
2. Gene mutation

Chromosomal mutation
Is the result of changes in the number or

structure of chromosomes
Can cause changes in the characteristics of the
organism
Changes in the no of chromosomes are usually
the result of errors occurring during meiosis or
mitosis
These changes may involve the loss of a pair or
a single chromosome, or the increase in an
entire haploid set of chromosomespolyploidy

Consequences of chromosomal
mutation
1. Downs syndrome
Individuals suffering from Downs syndrome

have 47 chromosomes
Additional chromosome is autosome no 21
Symptoms: mental retardation, reduced
resistance to disease, congenital heart
abnormalities, a short stocky body, a thick
neck and the characteristics folds of skin over
the inner corner of the eye
Termed as mongolism

2. Klinefelters syndrome
Have an extra X chromosome, so that the usual
karyotype of XY is replaced by one of XXY
Male with underdeveloped testis, infertility and
some female characteristic such as breast
enlargement

3. Turners syndrome
Lack one X chromosome
Such women are XO, rather than the normal XX.
Have ovaries and breast that do not develop, do
not experience the menstrual cycle and do not
ovulate

** Downs syndrome and other related

chromosomal abnormalities occur more
frequently in children born to older women
related to the age of the mothers egg cells

2. Gene Mutation/point
mutation

Is a change in the structure of the DNA at a

single locus
Difficult to detect because physical changes on
specific genes are not visible and cannot be
observed under a microscope
Often have undesirable effects but are
sometimes beneficial to the mutant organism
If gene mutation produces a beneficial
phenotype, the frequency of the mutation in
the population will increase from generation to
generation as a result of natural selection

Consequences of gene
mutation

1. Colour Blindness
Is a sex-linked recessive trait
Recessive gene for colour blindness is found on

the human X chromosome

Most common form is red-green colour
blindness(cannot distinguishes red & green)
Females have pair of genes that control color
blindness but male have only one
If a male inherits one gene for CB,he has this
disorder
Female can only has this disorder if she inherits
two recessive genes,one from each parent

2. Albinism
Occurs when the gene which is responsible for
normal pigmentation undergoes mutation
The gene responsible for albinism is recessive
Albino human beings are unable to produce
the black pigment (melanin)
So, they have no distinct colour in their skin,
hair or eyes

Causes of mutation
1.
-

Radioactive substances
Radioactive radiation such as alpha, beta and
gamma radiation
X-ray also can cause mutation
Can leads to cancer
Can change the structure of functions of gene and
chromosome

2. High Intensity Ultraviolet Light

- Ultraviolet from the sun can destroy the cells in the skin
and cause mutation
- Can leads to skin cancer
3. Chemical substances
- Exposure of certain chemical substances like
formaldehyde, pesticides, benzene,nicotine
- Can cause cancer and foetal deformity

4. Changes in environment
- After a long period of time, changes in the
environment can cause organisms to adapt
themselves and mutate into new species
- These new species with their adapted or mutated
features are most suitable for living in the
changing environment

Advantages and
disadvantages of mutation
Advantages

Disadvantages

1. Mutation produces genetic

variation. This can give rise to
new species.

1. Can cause genetic disorder

such as albinism and
haemophilia which can be
passed on future generations

2. Plants and animals mutate in

response to adverse changes in
the environment. Mutation
gives them a better chance to
survive

2. Can cause abnormalities in

children

Exercise: Mutation
1. What is mutation
2. What pigment gives our skin colour?
3. Why is haemophilia known as a sex-linked

disease?
4. State one disorder in a woman with
Turners syndrome.
5. Illustrate what will happen if a normal
female (carrier) haemophilia married to a
normal male.

Variation
Each person has unique features which

enable you to differentiate him or her from

other friends
No two people are exactly the same
These differences among individuals in a
population or a species are called variation
The differences may be the result of genetic
differences, the influences of the
environment, or a combination of genetic
and environmental influences.

In human usually the character referred to

are the physical characters such as height,

weight, skin colour, etc..
The differences in physiological processes
such as our blood glucose level and
immunity level are also considered
There are two types of variation:
(1)Continuous variation
(2)Discontinuous variation

Continuous Variation
The characteristics can be measured or graded on a

scale such as human heights, weight,skin colour, etc..

Cannot be grouped into distinct and discrete phenotypes
Usually quantitative (they can be measured) and are
determined by genes and influenced by environmental
factors.
In *CV, a normal distribution curve is obtained
From the distribution curve, it can be seen that
individuals show gradual difference from one extreme to
another extreme
There are very few individuals who are very short or
very tall
Most of them are of average height

Discontinuous variation
The characters are discrete and cannot be

measured or graded on a scale such as

ABO blood group, color blindness, presence
or absence of earlobe,etc..
Are qualitative(they cannot be measured or
graded)
usually determined by a single gene with
distinct effect.
Discrete distribution is obtained

The differences of
continuous variation and
discontinuous variation

Factors that cause variation

Importance of variation
Causes natural differences in appearance

among individuals of the same species

enables us to identify different individuals
Improves the ability to survive in a
changing environment
Gives rise to a large variety of plants and
animals.

Exercises: Variation
1. What is variation
2. What is continuous variation. Give an

example.
3. State two important factors which cause
variation
4. Why is the ability to roll ones tongue
considered as a discontinuous variation?
5. State one important use of variation in
daily life.