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M2M Unit II > Pharmacogenetics > Flashcards

Flashcards in Pharmacogenetics Deck (45):
1

Genetic variation that causes phenotypic variation in _____ between humans becomes important clinically every time you write a prescription.

drug responses

2

Define pharmacodynamics.

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

2

A frameshift mutation in CYP2D6 results in ______.

no activity

3

What is the mechanism for G6PD drugs?

X-linked enzymes

4

Name 2 ways pharmacokinetics is broken down further into ways that drugs are metabolized through biotransformations.

1) phase 1 (increase solubility) 2) phase 2 (easier excretion)

4

The cytochrome P450 (CYP450) genes encode important enzymes that are very active _____ and to a lesser extent _____.

in the liver; in the epithelium of the small intestine

5

TMPT drugs?

6-mercaptopurine; 6-thioguanine

6

A missense mutation in CYP2D6 results in ______.

reduced activity

7

_________ is the study of differences in drug response due to allelic variation in genes affecting drug metabolism, efficacy, and toxicity.

Pharmacogenetics

7

______ that causes phenotypic variation in drug responses between humans becomes important clinically every time you write a prescription.

Genetic variation

9

Pharmacogenetics is the study of differences in drug response due to allelic variation in genes affecting _________.

drug metabolism, efficacy, and toxicity

10

_______ is concerned with the assessment of common genetic variants in the aggregate for their impact on the outcome of drug therapy.

Pharmacogenomics

11

________ is required to convert codeine into morphine.

CYP2D6

13

The rate at which the body absorbs, transports, metabolizes, or excretes drugs or their metabolites is called _________.

pharmacokinetics

13

________ are involved in the Phase I metabolism of ~90% of all commonly used medications.

The CYP families (CYP1, CYP2, CYP3)

14

CYP3A inhibitors?

ketoconazole; grapefruit juice

16

Pharmacogenetics is the study of ______ due to allelic variation in genes affecting drug metabolism, efficacy, and toxicity.

differences in drug response

17

Copy number alleles mutation in CYP2D6 results in ______.

increased/superfast activity

18

Pharmacokinetics is concerned with ______ reaches the target(s) and pharmacodynamics is concerned with _____ successfully reaches its target.

whether or how much drug; what happens when the drug

19

How do phase 1 pharmacokinetics work?

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

20

The CYP families (CYP1, CYP2, CYP3) are particularly active including six genes that are involved in the Phase I metabolism of ______ medications.

90% of all commonly used

21

Two major areas of drug response that involve variation are?

1) pharmacokinetics 2) pharmacodynamics

21

G8PD deficient individuals are susceptible to ________ after drug exposures.

hemolytic anemia

22

NAT drugs?

isoniazid for TB

23

______ takes part in the metabolism of over 40% of all drugs used in clinical medicine.

CYP3A4

23

CYP2D6 is required to convert ____ into ______.

codeine; morphine

24

Pharmacogenomics is concerned with the assessment of ____ in the aggregate for their impact on the outcome of drug therapy.

common genetic variants

24

The ______ genes encode important enzymes that are very active in the liver and to a lesser extent in the epithelium of the small intestine.

cytochrome P450 (CYP450)

25

Define pharmacokinetics.

the rate at which the body absorbs, transports, metabolizes, or excretes drugs or their metabolites

26

_______ is concerned with whether or how much drug reaches the target(s) and _______ is concerned with what happens when the drug successfully reaches its target.

Pharmacokinetics; pharmacodynamics

28

The response of the drug binding to its targets and downstream targets, such as receptors, enzymes, or metabolic pathways is _______.

pharmacodynamics

29

Most _____ are important in the rate of inactivation of a drug, but in some cases they are required to activate a drug.

CYP genes

29

TMPT and ALL leukemia result?

will kill the child due to immunosuppression

30

G6PD drugs?

sulfonamide, dapsone

31

Most CYP genes are important in the _____, but in some cases they are required to activate a drug.

rate of inactivation of a drug

32

How do phase 2 pharmacokinetics work?

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

33

VKORC1 drug?

Warfarin

35

Why are the CYP genes important to prescribing physicians?

there is wide genetic polymorphic variation with phenotypic consequences in them

37

A mutation that alters the reading frame is a _______ mutation.

frameshift

38

A splicing mutation in CYP2D6 results in ______.

no activity

40

CYP3A4 takes part in the metabolism of _______.

over 40% of all drugs used in clinical medicine

42

________ is the principal phase I metabolizer of about 70 drugs.

CYP2D6

43

CYP3A inducers?

rifampicin

44

CYP3A substrates?

cyclosporine

45

CYP2C9 substrates?

warfarin