Mitochondrial inheritance · USMLE Step 1

Which principle explains why rare deleterious mtDNA mutations may be lost in one generation despite being present in the mother?

  1. Recombination within the nuclear genome
  2. The bottleneck effect during oogenesis
  3. Gene conversion between mtDNA copies
  4. A dominant-negative protein effect
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Correct answer: The bottleneck effect during oogenesis

During oogenesis, only a small subset of mtDNA molecules is transmitted to each egg; this “bottleneck” may randomly exclude some mutant genomes, so offspring can inherit mostly normal mtDNA despite maternal mutation.

Difficulty: Medium Question 14 of 19

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