Difficulty: Easy
Correct Answer: Penetrance
Explanation:
Introduction / Context:
In human genetics and Mendelian inheritance, the terms “penetrance” and “expressivity” are often confused. This question tests your understanding of how often a genotype produces its expected phenotype in real organisms, which is a cornerstone for risk prediction in medical genetics and for interpreting pedigree data.
Given Data / Assumptions:
Concept / Approach:
Penetrance refers to the proportion (often expressed as a percentage) of individuals with a given genotype who display the expected phenotype. If 80 out of 100 carriers show the trait, penetrance is 80%. Expressivity, by contrast, describes the degree or severity of phenotype among those who are affected. Distinguishing these concepts is essential when evaluating variable outcomes from the same genotype.
Step-by-Step Solution:
Verification / Alternative check:
In disorders with incomplete penetrance, not all carriers are affected; clinical genetics references consistently define penetrance as this percentage, confirming the term selection.
Why Other Options Are Wrong:
Common Pitfalls:
Confusing “how many show it” (penetrance) with “how strongly they show it” (expressivity). Also, mixing up population prevalence with genotype-conditioned probability.
Final Answer:
Penetrance
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