1. Which of the following would be the best classification for the HD gene mutat

Question

1. Which of the following would be the best classification for the HD gene mutation?

Haploinsufficient

Loss of function

Dominant negative

Gain of function

2. An individual with Huntington disease has two normal parents. Which of the following is NOT a possible explanation?

The individual has two copies of the HD mutant gene

A spontaneous mutation occurred in the father’s germline to produce a mutant HD allele

A spontaneous mutation occurred in the mother’s germline to produce a mutant HD allele

Huntington disease shows incomplete penetrance

3. A phenotypically normal individual with a sibling that has cystic fibrosis marries a known carrier of the CF mutation. If they have a child, what is the probability that their child will develop cystic fibrosis?

1/4

1/3

1/8

1/6

Explanation / Answer

1. there is a loss of function i.e thee is repetititon of CAG in the gne which generated protein but in HD there is excessive repetition of CAG which produces a disturbed proetin which causs loss of function

2. It is autosomal dominant gene and option c is correct because mother can be carrier if one X chromosome gets affected and other X is normal but there children will have the disease when it will pass from mother to the boy

3.1/4 will have the disease becaue other will be carrie but this one will have both the gene of cystic fibrosis, one will be absolutely normal and other two will e carrier

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