wk 9. pharmacogenetics

Question 1

SNPs

Answer 1

single nucleotide polymorphisms - most common. change in single base pair. can happen to enzyme transporters, targets etx

Question 2

copy number variation

Answer 2

larger scale alterations that affect other genes

Question 3

the pharmacokinetic effect

Answer 3

cyp2d6 polymorphism - the enzyme that converts codeine to morphine. poor/normal/ultra-rapid metabolizers

thiopurine methyltransferase (tpmt) - metabolizes thiopurine/immunosuppresant drugs. deficiency can lead to bone marrow suppresion

Question 4

the pharmacodynamic effect

Answer 4

glucose-6-phosphate dehydrogenase (G6PD) enzyme that protects RBCs from oxidative damage, deficiency can lead to hemolysis

Question 5

warfarin mechanism of action

Answer 5

it is an anticoagulant that works by inhibiting the vitamin k epoxide reductase complex (VKORC1) enzyme which is essential for the recycling of vitamin k. and vitamin k is responsible for the synthesis of clotting factors.

Question 6

INR

Answer 6

international normalized ratio. monitoes the effectiveness of anticoagulants.

more than 4 -> risk of bleeding. reduce or skip warfarin
1 -> normal
below 1 -> increase warfarin as there is risk of thrombosis (blood clot formation)