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Question #46415

Difficulty: 8/10 | 🟢 Free

The Question

In the human genome, microsatellites (short tandem repeats) exhibit high polymorphism. During DNA replication, as the replication fork progresses through a tract of CAG repeats, a temporary dissociation and backward looping of the newly synthesized strand occurs. Assuming the cell's mismatch repair (MMR) system fails to correct this error, what will be the immediate molecular consequence and its associated clinical phenomenon?

Options

  • A.

    Deletion of the repeat tract, leading to a frameshift mutation and loss of function in the p53 gene.

  • B.

    Expansion of the repeat tract, leading to dynamic mutations and the phenomenon of genetic anticipation seen in Huntington's disease.

  • C.

    Substitution of a single base pair, leading to a missense mutation characteristic of Sickle cell anemia.

  • D.

    Inversion of the repeat sequence, leading to a dominant negative mutation and subsequent chromosomal non-disjunction.

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Correct Answer

Step-by-Step Solution

Explanation

How the Examiner Thinks

Comparative_Analysis

Sharpen your ability to evaluate multiple scenarios and distinguish between competing potential answers.

Concepts Behind This Question

DNA Polymerase|Microsatellite Expansion|Replication Slippage

Why This Question Is Tricky

Common Mistakes

Conceptual Pivot: Students often memorize that repetitive DNA forms the basis of DNA fingerprinting (polymorphism) but fail to connect how this polymorphism arises mechanistically (Polymerase slippage) and its pathological extremes (Trinucleotide repeat disorders).

Furthermore, distinguishing between the looping of the template strand (causing deletion) versus the newly synthesized strand (causing expansion) tests deep conceptual clarity of replication fork dynamics.

Quick Facts About This Question

Question Information

SubjectBiology
ChapterMolecular Basis of Inheritance - Class 12
ConceptHuman Genome Repetitive DNA
Difficulty8
Cognitive Load5
Target Solve Time120 sec
AccessFree