Do you ever see someone who

downs syndrome out

there?

Why do these happen to them?

3.4 MUTATION

Learning outcomes
At the end of the lesson, you are able to 1. State what mutation is 2. State the types of mutation 3. List examples of mutation 4. Identify the causes of mutation 5. State the advantages and disadvantages of mutation

 Mutation: the spontaneous change to the structure of genes or

chromosomes / genetic information.
Occurs in

Somatic/body cells (can be passed down through mitosis)

Gametes/reproductive cells (inherited)

TYPES OF MUTATION

Gene mutation

Chromosome mutation

structure of DNA

Change in the

chromosomes.

A change in the number and the of

structure

 Downs syndrome: an extra chromosome in autosome 21 (47 chromosomes) Klinefelters syndrome: a male with extra X chromosome (XXY) Turners syndrome: a female with one less X chromosome (XO) Polyploidy: having one or more chromosomes in a set of chromosome

 Colour blindness: a mutated gene in the X chromosome Sickle cell anemia: mutation in gene that produces haemoglobin; inefficient in transporting oxygen in the blood Albinism: the gene for skin colour is mutated; unable to produce black pigment (melanin) Haemophilia: mutation in gene that is important for blood-clotting

Downs syndrome

Additional or EXTRA chromosome at autosome 21. (47 Chromosomes) Physical retardation Thick neck Slanted eyes Protuding tongue Reduced resistance to diseases Need Special Care.

Klinefelters syndrome
A male with extra X chromosomes

(having XXY)
Infertile Underdeveloped testes Narrow shoulder Some female characteristics Enlarged breasts

Turners syndrome
A female having one less X chromosome

(XO)

Infertile Short Mentally retarded Has no ovaries Small breasts Folded skin on neck No menstrual cycle

Polyploidy
The number of chromosomes is increased by one or more sets. More common in plants.

Colour blindness
Mutant gene (recessive gene) on the X chromosome. Not able to differentiate colours especially green and red

common in males because male has only

More

one X chromosome

Albinism
The gene for skin colour is mutated (recessive gene)

Unable to produce melanin (black pigment) White hair Pink eyes and pinkish skin Skin is sensitive to sunlight

Sickle-cell anemia
Mutation in gene that produce haemoglobin Sickle-cell shaped of red blood cells Not efficient in transporting oxygen Facing painful crises such as chest pain, bone pain, Yellowing of eyes Inherited from both parents

Haemophilia
Mutation in chromosome X (for blood clotting) Have problem in blood clotting May bleed continuously or for a longer period A woman carrier may inherit the disease to a son

Spontaneous changes during cell division

Exposure to chemical mutagens: Benzene, formaldehyde, nicotine, sodium nitrite, pesticides

Exposure to physical mutagens: UV radiation, X-rays, radioactive radiation

Environmental change: the change of temperature for a long period causes genetic evolution in organism

Advantages Give rise to variation which leads to differences in traits

Disadvantages
Cause physical defects/deformities Causes genetic diseases Some chromosome mutations and gene mutation are lethal (fatal)

Better chance of survival when new species are more resistant to diseases

Causes mental defects

QUIZ
Please take a piece of paper and write your answers clearly.

 1. State the sex chromosomes for i) male ii) female 2. State 1 advantage and 1 disadvantage of mutations.