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• 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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This document was uploaded on 02/25/2014.
- Fall '14