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In sickle - cell anaemia , the defect is...

In sickle - cell anaemia , the defect is caused by the substitution of ……..(i) ……….by ………(ii) ………..in the ………(iii)………position of the beta - globin chain of the haemoglobin molecule.

A

(i) Val, (ii) Glu , (iii) nineth

B

(i) Glu , (ii) Val , (iii) sixth

C

(i) Val , (ii) Ser , (iii) fifth

D

(i) Gly , (ii) Val , (iii) seventh

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The correct Answer is:
**Step-by-Step Solution:** 1. **Identify the Condition**: The question is about sickle cell anemia, which is a genetic disorder affecting hemoglobin in red blood cells. 2. **Understand the Genetic Basis**: Sickle cell anemia is caused by a specific mutation in the beta-globin gene of hemoglobin. This mutation is a point mutation, meaning it involves a change in a single nucleotide. 3. **Determine the Amino Acid Substitution**: In sickle cell anemia, the amino acid glutamic acid is substituted by valine. This substitution occurs at a specific position in the beta-globin chain. 4. **Identify the Position of Substitution**: The substitution occurs at the 6th position of the beta-globin chain. This is crucial because it is this specific change that leads to the sickling of red blood cells. 5. **Summarize the Information**: Therefore, the defect in sickle cell anemia is caused by the substitution of glutamic acid (i) by valine (ii) in the 6th (iii) position of the beta-globin chain of the hemoglobin molecule. **Final Answer**: In sickle-cell anemia, the defect is caused by the substitution of **glutamic acid** (i) by **valine** (ii) in the **6th** (iii) position of the beta-globin chain of the hemoglobin molecule. ---
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Assertion :-Sickle-cell anaemia is caused by the substitutin of glutamic acid by valine at the sixth position of the beat globin chain of the hemoglobin moecule. Reason :- It is due to the single base substatution at the sixth codon of the beta lobin gene from GUG to GAG.

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