Conditions due to mutations

Question 1

What are 2 examples of conditions caused by gene mutations?

Answer 1

1. Duchenne muscular dystrophy.
2. Cystic fibrosis.

Question 2

Describe Duchenne muscular dystrophy as a condition caused by a gene mutation.

Answer 2

A genetic disease resulting in the wasting of leg muscles and then arms, shoulders and chest.

Question 3

Describe cystic fibrosis as a condition caused by a gene mutation.

Answer 3

A genetic disease that causes mucus-secreting glands in the lungs and pancreas to produce abnormally thick mucus.

Question 4

What are 4 examples of conditions caused by chromosomal mutations?

Answer 4

1. Trisomy 21 (down syndrome).
2. Monosomy.
3. Patau syndrome.
4. Turner syndrome.

Question 5

Describe trisomy 21 as a condition caused by a chromosomal mutation.

Answer 5

A genetic disorder resulting from an extra copy of chromosome 21 or an extra part of chromosome 21.

Question 6

Describe monosomy as a condition caused by a chromosomal mutation.

Answer 6

Where an individual has only one copy of a chromosome instead of two.

Question 7

What is an example of a lethal recessive condition?

Answer 7

1. Tay-Sachs disease (TSD)

Question 8

What is a lethal recessive?

Answer 8

A recessive alle that is inherited in the homozygous condition results in the death of the embryo, foetus or child.

Question 9

Describe Tay-Sachs disease as a lethal recessive condition.

Answer 9

A genetic disorder caused by a missing enzyme that results in fatty substances accumulating in the nervous system.