From the options listed below, choose ALL correct answers. (There may be more than one.) In...

From the options listed below, choose ALL correct answers. (There may be more than one.)

In the hunt to identify HTT, the disease-causing gene for Huntington’s disease (HD), it was discovered that human haplotypes A and C were highly associated with HD.

The DNA sequence variants geneticists used to detect haplotypes A and C were:

a) Extra repeats of a CAG codon located in the HTT gene

b) Single-nucleotide polymorphisms located near the HTT gene

c) Causal for Huntington’s disease

d) Not causal for Huntington’s disease

e) Located in the same chromosome region as one another

Expert Solution

Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain.

The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks: They are: cytosine, adenine, and guanine. These three nucleotides appear multiple times in a row on HTT gene. Normally, the CAG segment is repeated 10 to 35 times within the gene, whereas in people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder.

An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.

Thus, The DNA sequence variants geneticists used to detect haplotypes A and C were:
Extra repeats of a CAG codon located in the HTT gene.

Hence, option, "a" is the correct answer.

gladiator answered 2 years ago

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