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9 Cards in this Set

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  • Back
When taking a family history, how many generation should be included in the pedigree?
Three.
What characteristics indicated a positive family history.
First degree relatives with monogenic conditions. First or second degree relatives with complex d/o (i.e., cancer, diabetes).
In the context of patient counseling and testing decisions, what are the red flags for a woman with a history of breast cancer?
Number of relatives affected. Degreeof relationship to proband. Age of onset. Least affected sex. Related d/o. Example: patient with headaches shows family hx of breast cancer in mother, sister, aunts, and Uncle George. They all developed BRCA before age 45 years and three also developed ovarian cancer.
What are the four assumptions of the H-W principle?
The population mates randomly, allele frequencies maintain throughout generations, the population is big, and there is no gene flow.
Give the frequencies for the following genotypes: AA, Aa, and aa.
AA = p2. Aa = 2pq. aa = q2.
P = ?. Q = ?
P = the frequency of the dominant allele. Q = the frequency of the recessive allele.
(p + q)2 = ?
(p + q)2 = 1