Which of the following statements about Huntington disease isTRUE?

It is a polyglutamine disease.

The trinucleotide repeats occur in the non-coding region of thegene

It is more likely to occur if the mutant allele is inheritedfrom the mother

Two of the above

All of the above

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hillaryserem62Lv3

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A 26-year-old male medical student who has no neurological or psychiatric problems undergoes genetic testing to determine if he has a mutation in his Huntington Disease (HD) gene. Several of his maternal relatives, including his mother, have well documented HD. His test results are: HD allele 1: 17 repeats HD allele 2: 43 repeats The most accurate interpretation of this test is:

A He has inherited one HD gene mutation, but given that he currently has no symptoms by the age of 26, it is most likely that he will never develop the disease.

B He is an asymptomatic individual who inherited an HD gene mutation and will develop symptoms of the disease if he lives long enough.

C These test results are inconclusive and therefore his 50/50 risk of inheriting the disease from his mother has not been modified by the test.

D He has HD and should seriously consider another occupation as he will never be able to practice medicine competently.

E Luckily, he has one normal allele. Therefore he is only a gene carrier and will never develop the disease.

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

Haploinsufficient

Loss of function

Dominant negative

Gain of function

2. An individual with Huntingtondisease has two normal parents. Which of the following is NOT apossible explanation?

The individual has two copies of the HD mutant gene

A spontaneous mutation occurred in the fatherâs germline toproduce a mutant HD allele

A spontaneous mutation occurred in the motherâs germline toproduce a mutant HD allele

Huntington disease shows incomplete penetrance

3. A phenotypically normalindividual with a sibling that has cystic fibrosis marries a knowncarrier of the CF mutation. If they have a child, what is theprobability that their child will develop cysticfibrosis?

1/4

1/3

1/8

1/6

ambergnu488

Huntington Chorea is a serious genetic disorder caused by a rare dominant allele (H) at an autosomal locus on chromosome 4. Individuals bearing an H allele produce a damaging protein that accumulates within the brain, leading to progressive loss of motor control and often to dementia. The disease often manifests itself later in life, and usually, Huntington Chorea victims die within 15 years after their neurological symptoms are diagnosed, but some people die before even being diagnosed. In some rural Michigan populations, the frequency of people diagnosed with the disorder is unusually high, about 0.05%. Genetic work shows that the wild-type allele (+) mutates into H at a rate of 9.56x10-7 mutations per gamete.

Use these data to estimate how many children out of 10,000,000 births to parents without the disorder will have Huntingtonâs Chorea and if these Michigan populations are at mutation-selection equilibrium, estimate the relative fitness of individuals possessing this genetic disorder (express your answer with at least 4 digits after the decimal point). Assume that homozygotes for the H allele are non-existent because the H allele is super rare, and all individuals with Huntington Chorea are heterozygotes, H+.