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In this pedigree we have six informative individuals

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Unformatted text preview: hat • • the genotype of the individual is. In this pedigree, we have six informative individuals who must carry the mutation (I-2, II-1, II-3, III-1, III-3, and III-5) Of these, 5 display the disorder. Penetrance, thus = 5/6 = 83% (estimated) not expressed Problem 17b • While examples of all possible human trisomies can be identified in miscarried fetuses, monosomies are very rarely identified. In two sentences or less and in the space provided, explain why monosomies are so rare. too many is better than being deficient • Ascertainment bias - in order to identify aneuploidy, you need tissue to genotype. Trisomies tend to abort later, so you often recover tissue from the miscarriage to genotype. Monosomies are so incompatible with life that they abort very early such that no pregnancy may even have been detected, yet. No tissue is usually available, because the embryo (not fetus) has been resorbed by the mother. Class 2. DNA Transposons Nonreplicative Transposition replicative or nonrep • A TE moves from...
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