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Disorders of the Excretory System

Sickle-cell a...

Question

Sickle-cell anaemia is caused due to the substitution of

A

Valine at the 6th position of alpha globin chain by glutamic acid

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B

Glutamic acid at the 6th position of beta globin chain by valine

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C

Valine at the 6th position of beta globin chain by glutamine

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D

Glycine at the 6th position of alpha globin chain by glutamic acid

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Solution

The correct option is B Glutamic acid at the 6th position of beta globin chain by valine
Sickle-cell anemia is caused by the single base substitution of Glutamic Acid (Glu) by valine (Val) at the sixth position of the beta (\beta\) globin chain of the haemoglobin molecule. It is an autosomal-linked recessive trait that can be transmitted from parents to the offsprings when both the parents are the carrier of the disease.

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H b^{c} H b^{S^{C}}

,is homozygous condition of sickle cell anaemia. Reason: It occurs due to substitution of glutamic acid by valine at 6th position of

β

-chain of haemoglobin.

Q. How many of the given statements are incorrect?

I. Thalassemia is caused due to mutation in only chromosome 21
II. Mutation on either chromosome 11 or 16 may cause sickle cell anaemia
III. At the 6

^{th}

position beta globin chain, glycine is replaced by glutamic acid in case of sickle cell anaemia
IV. Phenylketonuria is caused due to lack of enzyme phenylalanine tyrosinase

Q. Assertion :Only a boy child could be born with the substitution of glutamic acid by valine on 6th position

β

-chain of haemoglobin. Reason: The gene for the above mutation occurs in Y-Chromosome.

Q. The disease sickle-cell anaemia is caused by the substitution of (i) by (ii) at the (iii) position of (iv) globin chain of haemoglobin molecule.
Which of the, following correctly fills the blanks in the above statement?

Q. Read the following statements and choose the correct option.
I. In phenylketonuria the affected person does not secrete the enzyme to convert phenylalanine to tyrosine
II. Possibility of male becoming haemophiliac is extremely rare
III. Sickle cell anaemia is caused by the substitution of glutamic acid by valine at fifth position of beta chain of haemoglobin
IV. Myotonic dystrophy is an autosomal dominant trait.

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