CBSE Class 12 Biology sample paper 2023-24: question 18
From the official CBSE sample question paper for 2023-24, section B, question 18, for 2 marks. Try it first; the hints and our step-by-step solution are below.
Q18 · 2 marks · Very short answerCompetency-basedMolecular Basis of Inheritance
The diagram below shows the sequence of amino acids in part of a haemoglobin molecule.
- a)0 marks
If the base T* was substituted with A, how would it affect the haemoglobin chain?
- b)0 marks
Name the condition and the effects associated with the above substitution.
Figure in the paper: Haemoglobin chain: Val, His, Leu, Thr, Pro, Glu, Glu; below it the mRNA, below that DNA triplets CAT, GTA, AAT, TGA, GGA, CTT (T in the middle marked with * ), CTC. Key: Val=valine, His=histidine, Leu=leucine, Thr=threonine, Pro=proline, Glu=glutamic acid. See it in the official paper.
Source: official sample paper from cbseacademic.nic.in (PDF). See it in the full Sample paper 2023-24.
Hints
Open one hint at a time and try again before the next.
Hint 1
Write the new DNA triplet after the T is swapped for A.
Hint 2
Convert the new template triplet into its mRNA codon and look up the amino acid.
Hint 3
Which well-known disease is caused by Glu being replaced by Val in β-globin?
Step-by-step solution
Each step shows the marks it earns, as an examiner would award them. Checked by an independent re-solve from the question paper.
- ½ mark
a) The DNA triplet for glutamic acid is CTT, which gives the mRNA codon GAA. If the middle T* is replaced by A, the triplet becomes CAT. The mRNA codon then becomes GUA, which codes for valine. So in this chain, valine replaces glutamic acid (Glu → Val) at that position.
- ½ mark
b) The condition is sickle-cell anaemia, caused by this point mutation (single base substitution) in the β-globin gene.
- ½ mark
Effect: the mutant haemoglobin (HbS) polymerises under low oxygen tension.
- ½ mark
This changes the RBC from a biconcave disc into an elongated, sickle-shaped cell.
Answer: a) CTT → CAT (mRNA GAA → GUA), so glutamic acid is replaced by valine. b) Sickle-cell anaemia: mutant Hb polymerises under low O₂ and the RBCs become sickle-shaped.
Where the marks are
- States the triplet becomes CAT/GUA and valine replaces glutamic acid (0.5 mark)
- Names sickle-cell anaemia (0.5 mark)
- Mutant haemoglobin polymerises (0.5 mark)
- RBC changes from biconcave disc to sickle shape (0.5 mark)
Revise the chapter
- Chapter: Molecular Basis of Inheritance (notes, formulas, where marks are lost and every past question)
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