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Principles Of Inheritance And Variation

Question
CBSEENBI12001793

(a) Sickle celled anaemia in humans is a result of point mutation. Explain.

(b) Write the genotypes of both the parents who have produced a sickle celled anaemic offspring.

Solution

(a) Sickle cell anaemia in humans is a result of point mutation because a single base change in the gene for beta globin chain results in the change of amino acid residue glutamate to valine leads to the replacement of GAG by GUG codon at sixth position.

(b) Genotypes of parents who have produced a sickle celled anaemic offspring can be either 

HbA/ Hbs and HbA/ Hbs 

or,  Hbs/ Hbs and HbA/ Hbs