Pharmacogenetics Flashcards

1
Q

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

A

drug responses

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2
Q

Define pharmacodynamics.

A

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

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2
Q

A frameshift mutation in CYP2D6 results in ______.

A

no activity

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3
Q

What is the mechanism for G6PD drugs?

A

X-linked enzymes

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4
Q

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

A

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

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4
Q

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

A

in the liver; in the epithelium of the small intestine

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5
Q

TMPT drugs?

A

6-mercaptopurine; 6-thioguanine

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6
Q

A missense mutation in CYP2D6 results in ______.

A

reduced activity

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7
Q

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

A

Pharmacogenetics

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7
Q

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

A

Genetic variation

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9
Q

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

A

drug metabolism, efficacy, and toxicity

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10
Q

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

A

Pharmacogenomics

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11
Q

________ is required to convert codeine into morphine.

A

CYP2D6

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13
Q

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

A

pharmacokinetics

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13
Q

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

A

The CYP families (CYP1, CYP2, CYP3)

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14
Q

CYP3A inhibitors?

A

ketoconazole; grapefruit juice

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16
Q

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

A

differences in drug response

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17
Q

Copy number alleles mutation in CYP2D6 results in ______.

A

increased/superfast activity

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18
Q

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

A

whether or how much drug; what happens when the drug

19
Q

How do phase 1 pharmacokinetics work?

A

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

20
Q

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

A

90% of all commonly used

21
Q

Two major areas of drug response that involve variation are?

A

1) pharmacokinetics 2) pharmacodynamics

21
Q

G8PD deficient individuals are susceptible to ________ after drug exposures.

A

hemolytic anemia

22
Q

NAT drugs?

A

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