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Pharm 2014 Unit 1 > pharmacogenetics > Flashcards

pharmacogenetics Flashcards

1
Q

what is pharmacogenetics?

A

the study of genes and their alleles in relationship to drug response in a given patient

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2
Q

what is pharmacogenomics?

A

the study of genes related to drug metabolism, and the use of this knowledge to develop new, targeted drugs

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3
Q

what is the 4th or 5th leading cause of death among adults?

A

adverse drug rxn

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4
Q

how many Americans die each year from ADR?

A

100,000

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5
Q

pharmacogenomics allow

A
  1. drug design keyed by genetics

2. individualized drug therapy

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6
Q

what are ADME core markers?

A

absorption, distribution, metabolism, excretion

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7
Q

what is a very important p450 family located on chromosome 22?

A

CYP2D6

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8
Q

CYP2D6 is involved in what kinds of drug metabolism?

A

antidepressant, neuroleptics, beta blockers, analgesis

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9
Q

what do you mean my normal condition (extensive)?

A

the presence of two functional alleles, most drugs are targeted to these individuals

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10
Q

what is a poor metabolizer?

A

who has no functional allele for this gene

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11
Q

what is an ultra metabolizer?

A

who has duplicate copies of the functional alleles and generally degrades the drugs so rapidly that is eliminated before therapeutic levels can be reached.

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12
Q

what is intermediate metabolizers?

A

who are heterozygotes with one functional and one mutant allele

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13
Q

how does codeine conversion occur?

A

CYP2D6 converts codeine (prodrug) to morphine (active form)

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14
Q

poor metabolizers

A

cannot convert the drug thus have a limited therapeutic benefit from it

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15
Q

ultra metabolizers may become

A

intoxicated with even low doses of codeine

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16
Q

what is another important metabolic gene?

A

TPMT (thiopurine methyltransferase)

17
Q

what is the role of TPMT?

A

it catayzes s-methylation and inactivates the drugs 6-MP and 6-thioguanine that are used for imunosuppression and the treatment of leukemia

18
Q

what will happen to two mutations (homozygous) for defect in TPMT?

A

high level of 6-MP which usually results in life threatening damage to the bone marrow can lead to bone marrow failure

19
Q

what about heterozygotes for defect in TPMT?

A

heterozygotes may also experience toxic effects and will require lower doses or use of a different drug

20
Q

what is favism?

A

oxidants in the fava bean can lead to severe hemolytic anemia in individuals with G6PD def.

21
Q

what is an important factor that contribute to ADR?

A

genetic differences in individuals

22
Q

how much of all ADRs are due to genetics abnormalities?

A

50%

23
Q

using pharmacogenomics we can accomplish

A
  1. drug design keyed by genetics

2. individualized drug therapy

24
Q

what are the two genes that directly affect the warfarin metabolism?

A
  1. Vitamin K Epoxide Reductase Complex 1 (VKORC1)

2. CYP2C9 allele of cytochrome p450

Pharm 2014 Unit 1 (13 decks)

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