MED 1201 Lecture Notes - Intellectual Disability, Genetics (Journal), Polyneuropathy
20 Nov 2012
School
Department
Course
Professor
Document Summary
Pku = causes intellectual disability but is treatable. You"d have to use a different equation. Slide 7: see loose leaf paper, autosomal recessive. Risk of having, it"s : 2/3 (1/3 is aa, 2/3 is aa, 1/3 is aa, it"s too damn high! Charles" chances of being a carrier is (many unaffected kids with bob and betty. Betty"s sister"s son + her own daughter have affected child, so she"s likely the carrier. For charles" wife, we assume the general population. 1/2000 for cf, so q^2 = 1/2000, q. = 1/44. p = 1 q = 43/44 ~1. 1/22 is how likely charles" wife is a carrier. Is the likelihood that debbie will have cf if both are carriers. Likelihood that debbie is a carrier = [(1/2)(1/2)(21/22)(1)] + [(1/22)(1/2)(1/2)(1)] + [(1/2)(1/22)(2/3): barbara, calvin, cathy, betty, it could be the same family mutation (same nucleotide) Not x-linked recessive: not x because a male passed it onto his son.
