NEETZoologyPrinciples of Inheritance and Variation
What is the primary cause of sickle-cell anaemia at the molecular level?
Options
- AA deletion of a base pair in the gene
- BA substitution of a single base pair in the beta globin gene
- CAn insertion of a base pair in the beta globin gene
- DA duplication of the beta globin gene
Correct answer
B. A substitution of a single base pair in the beta globin gene
Step-by-step solution
This is an autosome linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier for the gene (or heterozygous). The disease is controlled by a single pair of allele, HbA and HbS . Out of the three possible genotypes only homozygous individuals for HbS (HbSHbS ) show the diseased phenotype. Heterozygous (HbAHbS ) individuals appear apparently unaffected but they are carrier of the disease as there is 50 per cent probability of transmission of the mutant gene to the