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Inheritance of Autosomal Recessive Disorders

Replacement o...

Question

Replacement of which one of the following nucleotides in the Hbb gene that codes for hemoglobin protein causes sickle cell anaemia?

A

A to U

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B

C to G

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C

U to A

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D

T to A

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Solution

The correct option is A A to U
Sickle cell anemia is a hereditary blood disorder characterized by an abnormality in haemoglobin molecule in the red blood cells. This is a disorder caused due to a point mutation in the β- globin chain of hemoglobin. There is a point mutation which replaces A by U and results in glutamic acid replaced by valine. This results in the formation of abnormal hemoglobin and sickle-shaped RBCs.
Thus, the correct answer is option A.

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Q. Sickle cell anemia is a genetic disorder caused by a substitution mutation in the gene encoding hemoglobin, the protein on blood cells responsible for carrying oxygen. This mutation causes the hemoglobin protein to fold incorrectly, preventing the protein from carrying oxygen to the red blood cells.
Sickle cell anemia is inherited as a codominant trait, meaning that both alleles are expressed equally and that one is not dominant over the other. The allele for normal hemoglobin is represented by S, and the allele for abnormal hemoglobin is represented by s.
If two heterozygous individuals mate and produce offspring, what proportion of their offspring are expected to have fully sickled red blood cells?

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Inheritance of Autosomal Recessive Disorders

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