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Question

The sixth mutant codon of beta globin gene causing polymerization of Haemoglobin and change in RBC shape is

This question was previously asked in
NEET UG Re-Exam 2026 Question Paper (21-Jun-2026)
The correct answer is
GUG

Mutant Codon in Beta Globin Gene Explained

The question concerns a specific mutation in the beta globin gene responsible for altering red blood cell (RBC) shape and causing haemoglobin polymerization. This condition is characteristic of sickle cell anemia.

Identifying the Sickle Cell Mutation

  • The mutation occurs at the sixth position of the beta globin protein.
  • The normal codon is $GAG$, which codes for the amino acid Glutamic acid.
  • The specific mutant codon causing the disease is $GUG$.
  • This change replaces Glutamic acid with the amino acid Valine at the sixth position.
  • This single amino acid substitution (Glu → Val) alters the haemoglobin molecule (HbS), causing it to polymerize under low oxygen conditions.
  • The polymerization distorts the RBCs into a sickle shape, leading to various complications.

Therefore, the sixth mutant codon responsible for these effects is $GUG$.

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Important Questions from Genetics

  1. Which one of the following disorders is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglobin molecule ?
  2. Match List I with List II :

    List IList II
    A. Incomplete dominanceI. Human skin colour
    B. Co-dominanceII. Inheritance of flower colour in Antirrhinum sp.
    C. PleiotropyIII. Phenylketonuria disease in humans
    D. Polygenic inheritanceIV. ABO blood groups

    Choose the correct answer from the options given below :
  3. Which of the following statements are true with reference to the sex-determination in honeybees ?
    A. An offspring formed from the union of a sperm and an egg, develops as a female (queen or worker).
    B. An unfertilized egg develops as a male by parthenogenesis.
    C. A male has half the number of chromosomes than that of a female.
    D. Males produce sperms by meiosis.
    E. Honeybees have a haplodiploid sex-determination system.
    Choose the correct answer from the options given below :
  4. In which animal do haploid cells divide mitotically to produce gametes ?
  5. What is the probability of having children with 'O' blood group, where both mother and father are heterozygous for 'A' and 'B' blood group, respectively ?
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