7. (6 points) Retinoblastoma (Rb) is a rare cancer caused by a dominant autosomal allele with 90% penetrance. a) A man with Rb marries a normal woman with no family history of Rb. What is the chance that their first child will develop Rb? 3 points b) A phenotypically normal man whose mother had Rb marries a normal woman. What is the chance that their first child will develop Rb? (Think very carefully here!) 3 points
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Step 1: For the first scenario, the man with Rb is heterozygous for the dominant allele (Rb/rr) and the normal woman is homozygous for the recessive allele (rr/rr). Show more…
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As a genetic counselor, you are asked to assess the risk for a couple with a family history of retinoblastoma who are thinking about having children. Both the husband and wife are phenotypically normal, but the husband has a sister with familial retinoblastoma in both eyes. Part A What is the probability that this couple will have a child with retinoblastoma? Assume that familial retinoblastoma is inherited as an autosomal dominant gene with 90 percent penetrance. Drag the appropriate labels to their respective targets. Note: not all labels will be used. Part B Are there any tests that you could recommend to help in this assessment? Select the two correct answers. A. Test for the presence of the RB gene in the husband using molecular probes. B. Check for the RB product in cells to see if it is present and functional at normal levels. C. Test the activity of the RB in the nucleus of the cell. D. Check the levels of the RB protein in the husband's cells.
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9. Consider the pedigree to the right, displaying the inheritance of a rare recessive autosomal disease which is fully penetrant. What is the likelihood that the child will be affected? a. 1/2 b. 27/81 c. 1/4 d. 1/36 e. 1/64 10. Consider the following pedigree from a human family containing a male with Klinefelter syndrome (a set of abnormalities seen in XXY individuals; indicated with a shaded box). In each, A and B refer to codominant alleles of the X-linked G6PD gene. The phenotypes of each individual (A, B, or AB) are shown on the pedigree. In which parent did nondisjunction occur, and during which meiotic division? a. Mother, Meiosis 1 b. Mother, Meiosis 2 c. Father, Meiosis 1 d. Father, Meiosis 2 e. Either a or b
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