Question

Mutations in different autosomal recessively inherited genes may result in the development of leukemia in Fanconi anemia patients. Which of the following best describes why this can happen?

(A) locus heterogeneity
(B) allelic heterogeneity
(C) genotype-phenotype correlation
(D) de novo mutations
(E) variable expressivity

Answer 1

The development of leukemia in Fanconi anemia patients due to mutations in different autosomal recessively inherited genes is best described by locus heterogeneity.

Step-by-step explanation:

Mutations in different autosomal recessively inherited genes may result in the development of leukemia in Fanconi anemia patients due to locus heterogeneity. Locus heterogeneity occurs when mutations at different loci on an autosome can produce the same phenotype. In the context of Fanconi anemia, this means that mutations in any one of several genes can contribute to the development of leukemia. Each gene involved in Fanconi anemia has a specific role in DNA repair, and their dysfunction due to mutation can lead to cancer predisposition.