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Pathology Genetics d91d6b83

In Huntington chorea the causative mutation in the protein huntingtin is a:

A
Point mutation
B
Gene deletion
C
Frameshift mutation
D
Trinucleotide repeat expansion
High-Yield Explanation
Huntington disease (HD) Mutation in the HTT gene which codes for protein called huntingtin which is impoant to neurons. The HTT mutation involves a DNA segment known as a CAG trinucleotide repeat. Made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row leading to the disease.

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