Pharmacogenetics Flashcards Preview

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Flashcards in Pharmacogenetics Deck (34):
1

define genomics

relating to the genome

2

define pharmacokinetics

how the body affects the drug

3

define pharmacodynamics

how the drug affects the body

4

define stratified medicines

Selecting therapies for groups of patients with shared biological characteristics

5

define personalised medicine

therapies which are tailored to the individual

6

define germline mutation

hereditary mutation

7

define somatic

acquired mutation

8

what genetic variations affect drugs.

deletion/insertion
SNP’s
Gene amplification
Promoter polymorphisms
Translocations

9

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

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

10

what factors of drug action do genetic variations cause

absorption, activation, altered target, catabolism and excretion.

11

How can knowing genetic variation help with providing treatment.

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

12

what is the function of Thiopurine methyltransferase

inactivates certain drugs.

13

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

azathiopurine.

14

SNP in thiopurine methyltransferase has what effects

azathioprine as it isn’t being inactivated.
Severe toxicity if both copies of the gene have the variant

15

what is the function of N- acetyltransferase activity.

inactivates drugs

16

in which organ are N- acetyltransferases found

liver

17

by what method do N- acetyltransferases inactivate drugs

acetylation

18

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

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

19

what side effects do slow acetylators have

neuritis and liver toxicity

20

what occupation have slow aceylators

farmers

21

what occupation have fast aceylators

communities dependent on meat.

22

what is the effect of Succinylcholine

relaxes all muscles and hence prevent you from breathing.

23

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

BCHE gene

24

what medication is succinylcholine used in

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