**Core Concept**
Hemoglobin electrophoresis is a diagnostic tool used to identify and characterize abnormal hemoglobin variants, such as hemoglobin Cranston (HbCr), which contains an abnormal β-globin chain. The β-globin gene encodes the β-globin protein, and mutations in this gene can lead to the production of abnormal hemoglobin variants.
**Why the Correct Answer is Right**
The correct answer is D: A two base pair addition resulted in the elimination of a stop codon in the β-chain. The sequence of the HbCr β-chain shows an insertion of 6 nucleotides (UUUCUU) that eliminates the stop codon (UAA) present in the normal sequence. This results in the elongation of the β-globin protein, leading to the production of an unstable and abnormal hemoglobin variant. The addition of two base pairs (UU) followed by the insertion of 4 more nucleotides (CUUC) disrupts the reading frame, but the critical point is the elimination of the stop codon, which allows the translation machinery to continue reading the mRNA sequence beyond the normal termination point.
**Why Each Wrong Option is Incorrect**
**Option A:** A frameshift mutation resulted in the deletion of several amino acid residues in the β-chain. This option is incorrect because the sequence of the HbCr β-chain shows an insertion of nucleotides, not a deletion. Frameshift mutations typically result from insertions or deletions of nucleotides that disrupt the reading frame, but in this case, the insertion of nucleotides eliminates the stop codon, leading to elongation of the protein.
**Option B:** A mutation in the stop codon resulted in elongation of the β-chain. This option is partially correct, as the elimination of the stop codon does lead to elongation of the protein. However, it does not accurately describe the type of mutation that occurred. The correct answer is that a two base pair addition resulted in the elimination of the stop codon.
**Option C:** A point mutation resulted in the insertion of a stop codon in the β-chain. This option is incorrect because the sequence of the HbCr β-chain shows the elimination of the stop codon, not the insertion of a new one. Point mutations typically result in the substitution of a single nucleotide, not the insertion of a stop codon.
**Clinical Pearl / High-Yield Fact**
The production of abnormal hemoglobin variants, such as HbCr, can be caused by a variety of genetic mutations, including point mutations, frameshift mutations, and insertions or deletions of nucleotides. Understanding the mechanisms of these mutations is critical for diagnosing and managing hemoglobinopathies.
**✓ Correct Answer: D. A two base pair addition resulted in the elimination of a stop codon in the β-chain.**
Free Medical MCQs · NEET PG · USMLE · AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.