Pharmacogenetics

Question 1

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

Answer 1

drug responses

Question 2

Define pharmacodynamics.

Answer 2

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

Question 2

A frameshift mutation in CYP2D6 results in ______.

Answer 2

no activity

Question 3

What is the mechanism for G6PD drugs?

Answer 3

X-linked enzymes

Question 4

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

Answer 4

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

Question 4

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

Answer 4

in the liver; in the epithelium of the small intestine

Question 5

TMPT drugs?

Answer 5

6-mercaptopurine; 6-thioguanine

Question 6

A missense mutation in CYP2D6 results in ______.

Answer 6

reduced activity

Question 7

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

Answer 7

Pharmacogenetics

Question 7

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

Answer 7

Genetic variation

Question 9

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

Answer 9

drug metabolism, efficacy, and toxicity

Question 10

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

Answer 10

Pharmacogenomics

Question 11

________ is required to convert codeine into morphine.

Answer 11

CYP2D6

Question 13

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

Answer 13

pharmacokinetics

Question 13

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

Answer 13

The CYP families (CYP1, CYP2, CYP3)

Question 14

CYP3A inhibitors?

Answer 14

ketoconazole; grapefruit juice

Question 16

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

Answer 16

differences in drug response

Question 17

Copy number alleles mutation in CYP2D6 results in ______.

Answer 17

increased/superfast activity

Question 18

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

Answer 18

whether or how much drug; what happens when the drug

Question 19

How do phase 1 pharmacokinetics work?

Answer 19

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

Question 20

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

Answer 20

90% of all commonly used

Question 21

Two major areas of drug response that involve variation are?

Answer 21

1) pharmacokinetics 2) pharmacodynamics

Question 21

G8PD deficient individuals are susceptible to ________ after drug exposures.

Answer 21

hemolytic anemia

Question 22

NAT drugs?

Answer 22

isoniazid for TB

Question 23

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

Answer 23

CYP3A4

Question 23

CYP2D6 is required to convert ____ into ______.

Answer 23

codeine; morphine

Question 24

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

Answer 24

common genetic variants

Question 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.

Answer 24

cytochrome P450 (CYP450)

Question 25

Define pharmacokinetics.

Answer 25

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

Question 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.

Answer 26

Pharmacokinetics; pharmacodynamics

Question 28

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

Answer 28

pharmacodynamics

Question 29

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

Answer 29

CYP genes

Question 29

TMPT and ALL leukemia result?

Answer 29

will kill the child due to immunosuppression

Question 30

G6PD drugs?

Answer 30

sulfonamide, dapsone

Question 31

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

Answer 31

rate of inactivation of a drug

Question 32

How do phase 2 pharmacokinetics work?

Answer 32

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

Question 33

VKORC1 drug?

Answer 33

Warfarin

Question 35

Why are the CYP genes important to prescribing physicians?

Answer 35

there is wide genetic polymorphic variation with phenotypic consequences in them

Question 37

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

Answer 37

frameshift

Question 38

A splicing mutation in CYP2D6 results in ______.

Answer 38

no activity

Question 40

CYP3A4 takes part in the metabolism of _______.

Answer 40

over 40% of all drugs used in clinical medicine

Question 42

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

Answer 42

CYP2D6

Question 43

CYP3A inducers?

Answer 43

rifampicin

Question 44

CYP3A substrates?

Answer 44

cyclosporine

Question 45

CYP2C9 substrates?

Answer 45

warfarin