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MUTATION
Definition:
The spontaneous change
to the genes or
chromosomes

MUTATION

Can occur in somatic cell or gametes

Mutation in gametes inherited

Mutation in somatic cell can be passed

down through mitotic division

Caused by mutagent (mutation agent)

Mutants are genetic materials which have

mutated

 Caused by mutagen (mutation

agent)
1. Chemicals
2. Radiations
3. Increase in temperature
. Mutants are genetic materials
which have mutated

TYPES OF MUTATIONS
Chromosome mutation
Change in the number or structure
of chromosomes

Gene mutation
Change in the structure of the DNA

CHROMOSOME MUTATION
EXAMPLES:
Downs syndrome
Klinefelters syndrome
Turners syndrome

DOWNS SYNDROME

Cause by additional
chromosome at the autosome
21

Have 47 chromosomes

Symptoms:

1.

Physical retardation

2.

Mental retardation

3.

Thick neck

4.

Slanted eyes

5.

Protruding tongue

6.

Short stocky body

7.

Reduced resistance to
diseases

Normal human karyotype

Downs syndrome karyotype

Klinefelters syndrome

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picture

Cause by an extra of X
chromosome - XXY

Have 47 chromosomes

male

Symptoms:

1.

Infertile

2.

Undeveloped testes

3.

Narrow shoulders

4.

Large breasts

Normal human karyotype

Klinefelters karyotype

Turners syndrome

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picture

Cause by a less of X
chromosome - XO

Have 45 chromosomes

female

Symptoms:

1.

Infertile

2.

Short

3.

Mentally retarded

4.

No ovaries

5.

No menstrual cycle

6.

Small breasts

7.

Fold of skin on neck

Normal human karyotype

turners syndrome karyotype

GENE MUTATION
EXAMPLES:
1.

ALBINISM

2.

SICKLE CELL ANEMIA

3.

COLOR BLINDNESS

4.

HAEMOPHILIA

ALBINISM
Changes the gene that
controls
skin colour . The
new gene cannot
produce
skin pigment

SICKLE CELL
ANEMIA

Changes the gene

that produces
haemoglobin .
Efficiency to carry
oxygen becomes low.

Color blindness
The existence of a recessive gene
that is defective and causes an
inability to see and differentiate
between red and
green colours.
Haemophilia
Lack of a protein in the blood
that is necessary for
blood-clotting

CAUSE OF MUTATION

Mutation can be caused by mutagent

Mutant + agent
Mutagents are the external agents

Two types of mutagents:

Chemical mutagents:
- benzene, nicotine and pesticides
(damage DNA, cause cancer, change
chromosomes and genes structure)

Physical mutagents:
-gamma rays, ultraviolet and X- rays
(penetrate cells to destroy or change the
chromosomes and genes structures)

ADVENTAGE OF MUTATION

Variations and evolution of species

-Different in traits among species

There is a better chance of survival

when new species are more resistance
to diseases and polluted environment

DISADVENTAGES OF MUTATION

Cause physical defects polydactyl

Cause mental defects downs

syndrome

Genetic diseases turners syndrome,

albinism

ANSWER:
Disease
Downs syndrome
Klinefelters
syndrome
Turners syndrome

Number of chromosomes

Sex