Pharmacogenetics

Question 1

what is pharmacogenetics?

Answer 1

study of differences in drug response due to allelic variations in genes affecting drug metabolism, efficacy, and toxicity

Question 2

what is pharmacogenomics?

Answer 2

genomic approach to pharmacogenetics, concerned with assessment of common genetic variants and their impact on outcome of drug therapy

Question 3

what are the 2 major areas of drug response that involve variation?

Answer 3

1. pharmacokinetics

2. pharmacodynamics

Question 4

what is pharmacokinetics?

Answer 4

whether or how much drug reaches the target

ADME (absorption, distribution, metabolism, and excretion of drugs)

Question 5

what is pharmacodynamics?

Answer 5

what happens when the drug successfully reaches its target

response of drug binding to its targets and downstream targets such as receptors, enzymes, or metabolic pathways

Question 6

what is phase I in pharmokinetics?

Answer 6

attach a polar group onto the compound to make it more soluble, usually a hydroxylation step

Question 7

what is phase II in pharmokinetics?

Answer 7

attach a sugar/acetyl group to detoxify the drug and make it easier to excrete

Question 8

what is the CYP450 complex?

Answer 8

gene products that are active in liver and intestinal epithelium

Question 9

what are the 3 families of CYP450?

Answer 9

CYP1, CYP2, CYP3

Question 10

what is the gene that is 40% common in all drugs for phase I?

Answer 10

CYP3A4

Question 11

what is the function of CYPs?

Answer 11

inactivate drugs, are rarely needed for activation

Question 12

what CYP is responsible for activation of codeine into morphine?

Answer 12

CYP2D6

Question 13

what mutations result in poor metabolizers? 4

Answer 13

1. frameshift
2. splicing
3. nonsense
4. missense (some)

Question 14

what mutations result in ultrafast metabolizers? 2

Answer 14

1. increased copy number

2. missense (some)