Which of the following exhibits allelic heterogeneity?
Correct Answer: Beta-thalassemia
Description: Allelic heterogeneity is the phenomenon in which different mutations at the same locus cause different phenotypes. These allelic variations can arise as a result of natural selection processes, as a result of exogenous mutagens, genetic drift, or genetic migration. Many of these mutations take the form of single nucleotide polymorphisms in which a single nucleotide base is altered compared to a consensus sequence. They can also exist as copy number variants (CNV) in which the copies of a gene or DNA sequence is different from the population.For example, b-thalassemia may be caused by several different mutations in the b-globin gene. Allelic heterogeneity should not be confused with locus heterogeneity in which a mutation in a different gene causes a similar phenotype. Nor should it be confused with phenotypic heterogeneity in which a mutation in the same gene causes a different phenotype. Other major diseases displaying allelic heterogeneity are allelic mutations in the dystrophin gene which cause Duchenne dystrophy and mutations in the CFTR gene that are known to causes cystic fibrosis. Ref Robbins 9/e pg 413
Category:
Pathology
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