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Question ID - 10437 | SaraNextGen Top Answer

Sickle-cell anaemia is an autosomal linked recessive trait can be transmitted from parents to the offspring when both the partners are carrier for all the genes or heterozygous. The disease is controlled by a single pair of allele,  and . Identify X, Y and Z

a)

GTG GAC Val (GUG)

b)

CAC CTC val (GUG)

c)

GTA GAG val (GUG)

d)

GTC GAC val (GUG)

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1 Answer
127 votes
Answer Key / Explanation : (a) -

(a)

In sickle-cell anaemia only one nucleotide substitution takes place from T to A.

Genetic or chromosomal symbol used for person who is having sickle-cell anaemia .

Sickle-cell Anaemia

(i) It is an autosome-linked recessive trait

(ii) The disease is controlled by a single pair of allele  and

(iii) Only the homozygous individuals for , i.e.,  show the diseased phenotype

(iv) The heterozygous individuals are carriers ()

(v) Due to point mutation, glutamic acid (Glu) is replaced by valine (Val) at the sixth position of -globin chain of haemoglobin molecule

(vi) A single base substitution at sixth codon of the beta globulin gene from GAG to GUG. GAG code for glutamic acid and GUG code for valine.

  1.  behaves as normal haemoglobin except under the oxygen stress where erythrocytes lose their circular shape and become sickle-shaped. As a result, the cells cannot pass through narrow capillaries. Blood capillaries are clogged and thus, affect blood supply to different organs

127 votes

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