Pharmacogenetics Flashcards

1
Q

define genomics

A

relating to the genome

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2
Q

define pharmacokinetics

A

how the body affects the drug

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3
Q

define pharmacodynamics

A

how the drug affects the body

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4
Q

define stratified medicines

A

Selecting therapies for groups of patients with shared biological characteristics

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5
Q

define personalised medicine

A

therapies which are tailored to the individual

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6
Q

define germline mutation

A

hereditary mutation

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7
Q

define somatic

A

acquired mutation

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8
Q

what genetic variations affect drugs.

A
deletion/insertion
SNP’s
Gene amplification
Promoter polymorphisms
Translocations
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9
Q

How do genetic variations cause change in the drugs used to treat conditions

A

change the protein activity of structure which leads to altered treatment outcomes.

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10
Q

what factors of drug action do genetic variations cause

A

absorption, activation, altered target, catabolism and excretion.

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11
Q

How can knowing genetic variation help with providing treatment.

A

Identify genetic variations that lead to altered outcomes
Change dose of drug where appropriate
Use a different drug that works better and/or has reduced toxicity
Guide new targeted drug development
Stratified/personalised medicine
Reduce financial costs of inappropriate treatment

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12
Q

what is the function of Thiopurine methyltransferase

A

inactivates certain drugs.

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13
Q

what drug commonly used as a immunosuppressant used in organ transplantation and autoimmune disease does thiopurine methyltransferase inactivate

A

azathiopurine.

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14
Q

SNP in thiopurine methyltransferase has what effects

A

azathioprine as it isn’t being inactivated.

Severe toxicity if both copies of the gene have the variant

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15
Q

what is the function of N- acetyltransferase activity.

A

inactivates drugs

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16
Q

in which organ are N- acetyltransferases found

17
Q

by what method do N- acetyltransferases inactivate drugs

A

acetylation

18
Q

why do N- acetyltransferases have both fast and slow acetylators.

A

“Fast” and “slow” acetylators – due to SNP variations in genes

19
Q

what side effects do slow acetylators have

A

neuritis and liver toxicity

20
Q

what occupation have slow aceylators

21
Q

what occupation have fast aceylators

A

communities dependent on meat.

22
Q

what is the effect of Succinylcholine

A

relaxes all muscles and hence prevent you from breathing.

23
Q

what gene mutation causes the effects of Succinylcholine to last for more than an hour increasing the risk of death

24
Q

what medication is succinylcholine used in

A

anaesthethics

25
Which gene and at what location does the mitochondrial DNA mutation cause problems.
Mitochondrial MT-RNR1 gene encodes mitochondrial 12s rRNA | G>A mutation at nucleotide position 1555 causes non-syndromic hearing loss.
26
what antibiotic is more likely to bind to the new mitochondrial mutation resulting in early hearing difficulties
aminoglycoslides.
27
Is the Mitochondrial MT-RNR1 gene maternally or paternally inherited
mitochondria- maternally.
28
what molecule does warfarin inhibit
VKOR.
29
why does warfarin dosage vary 20x between individuals (variations in which 2 genes)
due to variation in genotyping of CYP2C9 (one of the cytochrome p450 family) and vitamin K oxidoreductase complex-1 (VKORC1)
30
Are cancer mutations germline or somatic
somatic
31
what disease is Trastuzumab (Herceptin) used to treat
breast cancer
32
what receptor is commonly over expressed in breast cancer and is targeted by the drug perception (trastuzumab) which is a monoclonal antibody
HER2 receptor
33
what gene does most melanomas have a mutation in
BRAF gene- val to glu.
34
what drug can target the BRAF gene in melanomas
Vemurafenib