PKU is transmitted by a
A) single gene mutation.
B) pair of dominant genes.
C) dominant gene mutation.
D) triad of recessive genes.
E) single extra chromosome 23.

Question

Quizplus · Accepted Answer

PKU is caused by a single gene mutation on chromosome 12. Specifically, it is caused by a deficiency or absence of the enzyme phenylalanine hydroxylase, which is coded for by the PAH gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both copies of the gene (one from each parent) must be mutated for the disease to manifest.

PKU Is Transmitted by a