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drug design > pharmacogenetics > Flashcards

pharmacogenetics Flashcards

1
Q

what is bioiformatics used for

A

looks at the differences in peoples genes by screening the sequnces

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2
Q

how often do SNPs occurs

A

every 300-1000 bps

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3
Q

what two things cause genetic variations

A

SNP and CNV

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4
Q

where do SNPs occur

A

anywhere in the genome

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5
Q

what might SNPS affect

A

stabilty, transcription/ translation, localisation and actiivty

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6
Q

what does CNV affect

A

over 1000bp long segmnets of DNA

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7
Q

what affects genetic variation affects the genome more

A

CNV

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8
Q

what do CNVS do

A

chnage the number of gene copies which alters protein expression

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9
Q

how are CNVs measured

A

take a control sample and a patinet of experimental sample
label them with differernt flurorphores
anylisis through floursence. DNA sequences will hybridize to differnet probes which consititue the whole genome
equal floursence means same amou t of copies, if one is more than others it will show that colour
once have the arrays can peice toegtehr the fragments of DNA and recontruct the chromosome

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10
Q

how much does the genome conatin

A

around 3 billlion bp in haploid set of chromosomes

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11
Q

what did the huamn genome project tell us about single mendelain disorders

A
  • sickle cell anemia is an example
  • caustitive gene s
    -common and rare muatations
    -modifier genes/ polymorphisms
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12
Q

what did the human genome project tell us about common complex diseases

A
  • rheaumtiod arhtitis is the example
  • protective genes
    -pharamcogenetic variants
  • modifier genes/polymoprhisms
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13
Q

what are exmaples of harmless DNA varitaions

A

height and eye colour

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14
Q

what disease is an example of a negative change in DNA

A

haemophilia

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15
Q

what is an exmaple of interplay between genes and enviroment

A

formaldehyde breaks down the BRCA1 tumour supressor

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16
Q

what is pharmacogenetics

A

the genetic basis for the individual vartiaon of drig responses (normally look at 1 or two genes)

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17
Q

what is metabolsim

A

chemical alteration of drug to aid excretion

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18
Q

what are external factors

A

diet and exercise

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19
Q

what are internal factors

A

species, genetic make up, sex and age ect

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20
Q

what is one size fits all pharmacology

A

some benefit while some may not, feuled by trail and error

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21
Q

how ineffective are antidepressants

A

up to 80%

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22
Q

how ineffective are ACE ihibitors

A

for proteinuria and hypertesion
10-30%

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23
Q

how ineffctive are beta blockers

A

cardiac
15-25%

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24
Q

what is pharmacogenomics

A

the whole genome application of pharamgentic

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25
Q

what are the aims of pharamgenomics

A
  • identify patients who will respond well
  • identify patients who will have adverse affect
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26
Q

how is pharmagenomics used in individualised medicine

A

use screening and patients stratificaton to look for specific SNPs associated with patient reponse

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27
Q

what are two exmaples of pharmacogenomics in individualise medicine

A
  • CYP450 variants for warafin therapy
  • factor V leiden mutataion before oral contraception
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28
Q

what are case contriol studies

A

healthy vs disease or normal drug response vs adverse drug reposne

29
Q

what are genome wide assocaition studies

A

compare large populations to ID fucntionally important SNPs or combnation SNPs (can also look at CNVs)

30
Q

what are the promises of pharmacyogenomics

A
  • improved drugs choses
  • safer doses
  • improvement in drug devlopement
  • decreased health care costs
31
Q

what is the issue with primaquine

A

if you have a g-6-pd defiency causes heamolysis of red blood cells and anemia. Primaquine is an oxidant and causing damage through ROS whihc reduced gluathione would normally protect against.

32
Q

where are there higher rates of G-6-PD defiency

A

in malaria high high countries there are reports that suggest it could give protection

33
Q

give exmaples of anti malrai druhgs

A

primaquine
sulfanilamide

34
Q

what is pharmakinetic varation

A

variation affecting drug metabolism/ transport (ADME)

35
Q

what is pharmadynamic varation

A

varitaion affecting drug targets or assocaited pathways

36
Q

what is the rare and unpredictable genetic variatoin

A

variation associated with idiosynthric pathways not related to the pharmacological properties of the drug usually immune mediated

37
Q

what drug has to be metabolized to become cytotoxic

A

cyclophophamide is non toxic but when metaboilsied by CYP2B6 becoes cytotoxic

38
Q

what needs to be considered in pharamkinetic varitation

A
  • is parent or metabolite active
  • is genetic varaint causing an increase or decrease activtity
39
Q

what does therpautic affect depend on

A

whetehr parent or metaolite is active

40
Q

what is phase I metabolism

A

addition of functional groups making metabolites more polar

41
Q

what reactions take place in phase I metbolims and which one the most

A

hydrolysis, oxidation and reduction
oxidation most common by CYP450

42
Q

what does phase I normally do

A

inactivate the drug

43
Q

what happens to the product after phase I metbaolism

A

normally undergoes conjugation in pahse II

44
Q

what does phase II include

A

sulphataion, glucuronidation, acteylation, conjugation to gluathiane

45
Q

what does phase II produce

A

highly polar molecules ready for excreation, usaullly inactivates drugs

46
Q

what drug does pahse II activate

A

morphin 6 glucorinide

47
Q

what defect causes paralysis with suucinylcholine and what is SCC used for

A

used in theatre for incubation
defect in butyrylcholinesterase can cause paralysis and repiratory faliure

48
Q

what are the different variruanst of BCHE defeiciney

A

heterozygous- prolonged paralysis (3-4x)
homozygous- prolonged paraylsis (3-4 hrs)
Silent variant- associated with no cholinesterase activity from truncating mutations

49
Q

what are the two enzymes involved in alchohol metabolsim

A

alcohol dehydrogenase (ADH)
aldehyde dehyrodgase (ALDH)
tehy exhibit genetic heterogenity
there are multiple variants in both

50
Q

what variant causes lower levels of ahcoholism

A

ADH1B*2 more active so quickly conmverts ethanol into toxic alcytaldehyde

51
Q

what variant causes head and neck cancer from drinking

A

ALDH2*2 is loss of activty leading to toxic levels of acetaldehyde detected in the saliva

52
Q

how big is the superfamilt for cyp450

A

57 genes

53
Q

where is CYP450 mainlyt expressed

A

liver and GI tract

54
Q

what are the three main families of cyp450

A

cyp1, cyp2 and cyp3

55
Q

what is needed to convert codine to morphine

A

CYP2D6

56
Q

CYP2C19

A

decreased and 0 actiivty alleles,
metabolises antidepressants

57
Q

what enzyme metabolises antidepressanyts

A

CYP2C19

58
Q

CYP2C9

A

increased, decreased and 0 activity alleles, metabolises warfrin

59
Q

what enzyme meatbolsies warafrin

A

CY2C9

60
Q

CYP2D6

A

increased, decreased and zero activity
metabolsies nortryptilline

61
Q

what causes ultra rapid metabolism

A

gene amplification

62
Q

what metabolsies nortryptilline

A

CYP2D6

63
Q

for the genotype-phenotype relationship of CY2D6 what is the normal genotype

A

extensive metabolisms

64
Q

what does CY2D6 activate

A

codine to morphine

65
Q

what does CYP2D6 inactitivate

A

nortriptyline

66
Q

what is the p450 CYP chip reposible for

A

used to dtermine genotypes for alleles of selevetd cyp genes

67
Q

how do you test acetylator status

A

sulfadomide

68
Q

what does tmpt affect

A

the metabolsim of thioguanine and azothipurine
low TMPT leads to increased toxicity and seondary neoplasm
high TMPT leads to decreased therpautic affect

drug design (12 decks)

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