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Q. Sickle-cell anaemia results due to mutation caused by

AMUAMU 2015Principles of Inheritance and Variation

Solution:

Sickle-cell anaemia is an autosomal recessive disorder that occurs due to the substitution of glutamate by valine at position- $6$ of haemoglobin- $\beta$ -chain. It occurs due to the point mutation of nucleotide $A$ to $T$ in the codon for amino acid $6$ that changed glutamic acid codon $(GAG)$ to valine codon $(GTG)$.