Answer to Question #81876 in Genetics for susan Guido

Question

Huntington’s disease is caused by an allele at the IT15 gene. The allele produces RNA leading to
a protein that has a novel impact on how it interacts with other proteins, causing
neurodegenerative action. Is this allele best classified as functional, non-functional, or
abberant? Justify your answer in 1-2 sentences.

Answer 1

This allele is best classified as aberrant. Non-functional allele does not produce protein, or, even when protein is produced, it does not work, so the effect is the same. An allele that causes Huntington’s disease, instead, produces a protein with specific polyglutamine region, and its presence cause proteins interactions, that lead to disease. Non-functional alleles usually recessive, however, this allele is dominant.