How traits pass between generations, and how a gene gets read once it has arrived. Five questions from each unit.
The heredity five are all worked rather than recalled. A test cross, where the point is that a heterozygote crossed with a recessive gives one to one and not three to one. A family described in words and drawn as a pedigree — an affected man whose sons are all unaffected, and whose daughters each later have an affected son — which is the pattern that identifies X-linked recessive, because a father gives his son a Y. Non-disjunction and what it produces. An incomplete-dominance cross where no red offspring are possible at all, since the white parent has no red allele to give. And two cuttings from one plant grown in different soils, which is the cleanest demonstration there is that a phenotype is not a genotype.
The expression five run from transcription and translation through a silent mutation, alternative splicing, and the lac operon, to a question about why a gene is on in one tissue and off in another.
That last question is the one the free-response section is made of. A gene is transcribed in liver cells and silent in muscle. Two explanations fit: the muscle cells lack the transcription factors the promoter needs, or the gene has been methylated. The observation predicts neither over the other. What separates them is stripping the methylation and supplying nothing else — if transcription starts, the factors were there all along.
Every pedigree, cross and organism here is invented, and every pedigree is set out in sentences, the X-linked one drawn as well. The real paper uses diagrams and gels heavily.
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In an invented family, a man with a rare condition and an unaffected woman unrelated to him have two sons and two daughters, none of whom is affected. Both daughters later have an affected son of their own. No woman anywhere in the family has ever been affected. Which pattern of inheritance fits best?
In an invented family, a man with a rare condition and an unaffected woman unrelated to him have two sons and two daughters, none of whom is affected. Both daughters later have an affected son of their own. No woman anywhere in the family has ever been affected. Which pattern of inheritance fits best?
X-linked recessive
Three features settle it together. The affected man's sons are unaffected, and a father gives his son a Y and not an X, so an allele on the X cannot pass from father to son — which also disposes of Y-linked, where every son of an affected father would be affected. His daughters are unaffected and each carries the allele he gave them on the X they received from him, which is why it surfaces again in their sons; that skip through a female line is the signature of the pattern. And every affected person is male in a family where the allele has now traveled through several women without showing. Autosomal dominant is excluded outright: each of the affected man's four children would have had an even chance and none is affected. Autosomal recessive is the answer worth thinking about rather than dismissing — it can produce affected sons of unaffected parents — but it would give roughly equal numbers of affected men and women, and it would need the unrelated wife, and then both daughters' unrelated husbands, to be carriers of a rare allele, which is a great deal of coincidence where the X-linked account needs none.
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