The classical form of the metabolic disease phenylketonuria is caused by a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), which converts phenylalanine to tyrosine.A variant form of phenylketonuria is caused by a mutation in a separate gene that encodes a different enzyme involved in the synthesis of a cofactor needed for PAH to function.Which of the following phenomena is illustrated by these two forms of phenylketonuria?
A)Nonanonymous polymorphism
B)Allelic heterogeneity
C)Compound heterozygosity
D)Locus heterogeneity
E)Anonymous polymorphism
Blooms Level 3: Apply

Question

Quizplus · Accepted Answer

The two forms of phenylketonuria are caused by mutations in different genes, illustrating locus heterogeneity. This means that mutations at different genetic loci can lead to the same disease phenotype. This is different from allelic heterogeneity, where mutations at the same gene can lead to different disease phenotypes. Nonanonymous polymorphism refers to genetic variation that is linked to a known gene, while anonymous polymorphism refers to genetic variation that is not linked to a known gene. Compound heterozygosity occurs when an individual carries two different mutations at the same gene, resulting in a recessive disease phenotype. None of these concepts apply to the given scenario.

The Classical Form of the Metabolic Disease Phenylketonuria Is Caused