Pharmacogenomics Flashcards

1
Q

Pharmacogenetics

A

altered drug response in an individual linked to a genetic cause

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2
Q

Pharmacogenomics

A

altered drug response in a population linked to a genetic cause

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3
Q

Allele

A

alternative form of a gene

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4
Q

Genetics can cause what type of differences?

A

metabolism of the drug
alteration of the drug target
absorption of the drug

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5
Q

single nucleotide polymorphism (SNP)

A

alteration of 1 nucleotide
can cause altered function

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6
Q

SNP in coding region

A

changes the amino acid encoded

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7
Q

SNP in intron

A

alters the promotor/splicing

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8
Q

Variable number tandem repeats (VNTR)

A

repeating strings of nucleotides that can alter function
usually 4-40

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9
Q

True positive

A

has an alteration and identifies as alteration

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10
Q

true negative

A

has no alteration and identifies as no alteration

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11
Q

false positive

A

identifies as alteration when not

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12
Q

false negative

A

identifies as no alteration when is

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13
Q

what is the effect of a false positive in an efficacy study?

A

disease is untreated

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14
Q

what is the effect of a false negative in an efficacy study

A

think drug wont work but it would have
end up treating with different drug

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15
Q

what is the effect of a false positive in a safety study

A

think a complication will occur when it wont

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16
Q

What is the effect of a false negative in a safety study?

A

patient will have ADR

17
Q

Abacavir

A

Nucleotide reverse transcriptase inhibitor
used in combo therapy for HIV
blocks reverse transcriptase by blocking elongation
4-8% of patients get hypersensitity reaction linked to HLA-B*5701; intense rash/fatality

18
Q

Bupropion

A

treats depression; smoking cessation aid
acts as DAT and NET inhibitor and as an agonist at nicotinic receptors
non-tricyclic antidepressant
CYP2B6 responsible for metabolism

19
Q

Warfarin

A

oral anticoagulant used to treat/prevent embolic/thrombotic events
non-competitive inhibitor of VKORC-1
universal dosing difficult
risk of bleeding
metabolized by CYP2C9

20
Q

VKORC1 wild type mutation

A

5 mg
Normal resistance phenotype

21
Q

VKORC-1 Mutation Ala41->Ser

A

16 mg
Moderate resistance phenotype

22
Q

VKORC-1 Mutation Arg 48 -> Gly

A

34 mg
Major resistance phenotype

23
Q

VKORC-1 Mutation Leu128 ->Arg

A

> 45 mg
severe resistance phenotype

24
Q

CYP2CP*1

A

wild type

25
Q

CYP2C9*2

A

Arg 144 -> Cys
70% enzymatic activity, functionally deficient

26
Q

CYP2C9*3

A

Ile 359 -> Leu
5% enzymatic activity, severely deficient

27
Q

Methylphenidate

A

treats ADHD
DAT and NET inhibitor; increased levels of dopamine in the synapse

28
Q

VNTR of Dopamine D4

A

3’ intron repeat
people lacking a 10 repeat allele show increased drug response

29
Q

VNTR of DAT

A

exon 3 repeat
people with 4 repeat allele show increased drug response

30
Q

Mapping the human genome

A

completed in 2000
originally cost $2.7 billion and took 10 years
can now map for $1000 within a few days

31
Q

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)

A

treatment involving gene editing

32
Q

Cas9

A

bacterial endonuclease

33
Q

Induced Pluripotent Stem Cells (iPS)

A

come from skin/blood
can turn skin cells back into stem cells
used to test drugs on an individual’s actual cells