15.
Find the pattern of inheritance of the trait showing incomplete penetrance from the figure shown above.
(1) Autosomal dominant.
(2) Autosomal recessive.
(3) Mitochondrial inheritance.
(4) X-linked recessive.
The trait in this pedigree is best explained by autosomal dominant inheritance with incomplete penetrance.
Reading the pedigree
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Both males and females are affected in roughly equal numbers, so the trait is autosomal, not sex‑linked.
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Affected individuals appear in every generation, indicating a dominant pattern rather than a recessive one.
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Some obligate carriers (individuals who must carry the mutant allele because they have affected children) are phenotypically normal, which indicates incomplete penetrance of a dominant allele.
These points together match autosomal dominant inheritance with incomplete penetrance, corresponding to option (1).
Why not autosomal recessive?
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In true autosomal recessive pedigrees, affected children can be born to unaffected carrier parents, and affected individuals are usually fewer and may appear to “skip” generations.
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Here, affected individuals consistently have at least one affected parent, and there is extensive vertical transmission across generations, which is typical for dominant, not recessive traits.
Therefore option (2), autosomal recessive, does not fit this pedigree.
Why not mitochondrial inheritance?
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Mitochondrial traits show strict maternal inheritance: all children of an affected mother are usually affected, while children of an affected father are typically unaffected.
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In the given pedigree, affected fathers clearly have affected sons and unaffected children, contradicting the uniform maternal transmission expected for mitochondrial inheritance.
Hence option (3), mitochondrial inheritance, is ruled out.
Why not X‑linked recessive?
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X‑linked recessive traits primarily affect males, and affected males usually inherit the allele from carrier mothers; father‑to‑son transmission does not occur because sons receive the Y chromosome from their fathers.
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The pedigree shows affected males and females and also male‑to‑male transmission, which is incompatible with X‑linked recessive inheritance.
Thus option (4), X‑linked recessive, is inconsistent with the pattern seen.
Key genetic concept: incomplete penetrance
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Penetrance is the proportion of individuals with a particular genotype who actually express the associated phenotype.
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Incomplete penetrance means that some individuals inherit the disease‑causing variant but remain clinically unaffected, a feature commonly associated with autosomal dominant disorders.
This explains why some individuals in the pedigree who must carry the dominant allele (because of affected offspring) do not themselves show the trait.
SEO‑optimized introduction:
Autosomal dominant inheritance with incomplete penetrance is a frequently tested concept in human pedigree analysis, especially in competitive life‑science examinations. Understanding how incomplete penetrance alters the expected vertical pattern of a dominant trait helps students correctly differentiate autosomal dominant pedigrees from autosomal recessive, mitochondrial, and X‑linked recessive inheritance in exam questions.


