PS1_11+key

# PS1_11+key - Bio D137 PROBLEM SET#1 DUE Thurs 9/29 by 4pm...

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1 Bio D137 PROBLEM SET #1 DUE Thurs 9/29 by 4pm in the box, 4th floor McGaugh Hall. JLMarsh 1] Genetics impacts our private and professional lives. The attached article from the LATimes of Aug 18, 2007 illustrates such an example. This case illustrates biochemical pathways, diagnostics and medical ethics. a] If you were allowed to decide, what would you decide about discharging or accepting a person in the military whose father had Huntington’s disease but who was 28 years old and asymptomatic? Why? Answ: The son only has a 50:50 chance to have inherited the disease AND HD is incurable and terrible but typically does not show symptoms until late in life (often after 50 years). Why not give a person the chance to serve in the military if they so choose? (any answer, however, gets full credit) (1 point) b] What is factor V Leiden and how many people are we likely to have in our class of ~100 who have it if everyone were caucasian? Can you find the frequency if the whole class were Asian? What is it and where did you find it? Where does it fit into the clotting cascade? Answ: In the normal person, factor V is a protein which functions as a cofactor to allow factor X to activate thrombin. (1 point) It affects ~ 5% of Caucasians so about 5 people in our class are likely to have it. (1 point) Google “factor V leiden ethnic frequency” Ref RESULTS: In 2468 Caucasian Americans, carrier frequency of factor V Leiden was 5.27% (95% confidence interval [CI], 4.42%- 6.22%). Carrier frequency was 2.21% in 407 Hispanic Americans, 1.23% in 650 African Americans, 0.45% in 442 Asian Americans, and 1.25% in 80 Native Americans. Thus, prevalence of factor V Leiden was less among minority subjects (P=.001). JAMA. 1997 Apr 23- 30;277(16):1305-7. (1 point) Thus, if everyone in the class were Asian, there would probably be one or no people carrying the mutation. (1 point) In the clotting cascade, the variant in Factor V Leiden cannot be degraded by the activated Protein C, thus resulting in longer duration of thrombin production and thus hypercoagulation. (1 point) c ] What protects you from the situations described for the soldiers? Answ: Th genetic discrimination act, enacted in 1996, banning genetic discrimination in group health plans. Also, the Genetic Information Nondiscrimination Act, which was signed into law by George Bush on May 21, 2008. (1 point) 2] In plants the synthesis of purple anthocyanin pigment in the petals is controlled by two genes, B and D (F3’H & F3’5’H, flavonoid 3-hydroxylases). The pathway is : ( Plant CellPhysiol. 37(5): 711-716 (1996) ) WHITE INTERMEDIATE gene B enzyme > BLUE INTERMEDIATE gene D enzyme > Purple ANTHOCYANIN a) What color petals would you expect in a pure breeding plant homozygous for a mutant in B? answ :1pt white b) What color petals would you expect in a pure breeding plant unable to catalyze the conversion of the blue intermediate to purple?

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