Principles of Inheritance and Variation Question 213
213. Which one is a hereditary disease?
(a) Cataract
(b) Leprosy
(c) Blindness
(d) Phenylketonuria
Show Answer
Answer : d
Hints & Solution
(d) Phenylketonuria is a human genetic disorder in which the body does not contain the enzyme phenylalanine hydroxylase $(PAH)$, necessary to metabolise phenylalanine to tyrosine, and converts phenylalanine instead to phenylpyruvic acid. As PKU is an autosomal recessive genetic disorder each parent must have at least one defective allele of the gene for PAH, and the child must inherit a defective allele from each parent. As such, it is possible for a parent with a PKU phenotype to have a child without PKU if the other parent possesses at least one functional allele of the gene for PAH. A child of two parents with the PKU phenotype will always receive two defective alleles so will always have PKU. The gene for PAH is located on chromosome 12, at location 12q22-q24.2.
