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Principles of Inheritance and Variation — BIOLOGY STD 12 Science — Question

Gujarat BoardEnglish MediumSTD 12 ScienceBIOLOGYPrinciples of Inheritance and Variation2 Marks
Question
Explain reason of sickle cell anaemia disease.
✓

Answer

The cause of sickle cell anaemia is the replacement of glutamic acid (Glu), an amino acid, by valine in the sixth position of the beta globin chain of the hemoglobin molecule. This replacement of amino acids in the globin protein is caused by the replacement of GAG by GUG in the sixth codon of the beta globin gene. Under low oxygen tension, polymerization takes place in the mutated hemoglobin molecule due to which the shape of RBC changes from biconcave to sickle shape.

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