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Explain the causes, inheritance pattern and symptoms of any two Mendelian genetic disorders . |
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Answer» Haemophilia (i) It is a sex-linked recessive disorder. (ii) Patient continues to bleed even on a minor cut as the patient does not possess natural phenomenon of blood clotting. (iii) The gene for haemophilia is located on X- chromosome. (iv) So, more males suffer from haemophilia than females because in males single gene for the defect is able to express (v) The defective alleles produce non-functional cascade of protein involved in blood clotting (vi) Females suffer from this disease only in homozygous condition, i.e.,` X^(C)X^(C)`. Sickle-cell Anaemia (i) It is an autosomal linked recessive trait (ii) The disease is controlled by a single pair of allele `H_(b)^(A) and H_(b)^(S)` (iii) Only the homozygous individuals for `H_(b)^(S)`,ie., `H_(b)^(S)H_(b)^(S)` show the diseased phenotype. (iv) The heterozygous individual are carriers `(H_(b)^(A)H_(b)^(S))` (v) Due to point mutation Glutamic acid (Glu) is replaced by Valine (Val) at sixth positions of beta globin chain of haemoglobin molecule. (vi) `H_(b)^(S)` behaves as normal haemoglobin except under oxygen stress where erythrocytes lose their circular shape and become sickle-shaped. As a result, the cells cannot pass through narrow capillaries are clogged and thus, affect blood supply to different organs. |
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