Pharacogenomics

Question 1

missense mutation

Answer 1

change aa

Question 2

Nonsense mutation

Answer 2

truncate protein

Question 3

HLA -B5701 polymorphism

Answer 3

Affects HIV patients

• don’t use Abacavir

Question 4

HLA -1502 polymorphism

Answer 4

found in Han chinese

- don’t use allopurinol, carbamazepine, or phenytoin

Question 5

Mutations of TPMT

Answer 5

Ala154Thr
Tyr240Cys

(missense mutations)

Question 6

CYP 2D6 polymorphism

Answer 6

can increase or decrease metabolism of codeine

• decreased metabolism = cant be treated with codeine
• Suadi Arab = ultra rapid metabolizers
• Amitriptyline and paroxetine affected as well

Question 7

CYP2C19 polymorphism

Answer 7

usually converts Clopidogrel into active metabolites

• polymorph = dec active metabolites
• -> won’t block PGY platelet clotting

Question 8

CYP2C9

Answer 8

metabolizes S warfarin into less active metabolite

- if altered = too high concentration of warfarin –> increases risk of bleeding

Question 9

VKORC1 polymorphism

Answer 9

within promoter region that affects how warfarin changes things

• inc copies = sensitivity to warfarin
• dec copies = resistance to warfarin

Question 10

KRas polymorphism

Answer 10

won’t work with Cetuximab

- non responsive colon cancer