Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

how often do SNPs occurs

A

every 300-1000 bps

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what two things cause genetic variations

A

SNP and CNV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

where do SNPs occur

A

anywhere in the genome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what might SNPS affect

A

stabilty, transcription/ translation, localisation and actiivty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what does CNV affect

A

over 1000bp long segmnets of DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what affects genetic variation affects the genome more

A

CNV

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

what do CNVS do

A

chnage the number of gene copies which alters protein expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

how much does the genome conatin

A

around 3 billlion bp in haploid set of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what are exmaples of harmless DNA varitaions

A

height and eye colour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

what disease is an example of a negative change in DNA

A

haemophilia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is an exmaple of interplay between genes and enviroment

A

formaldehyde breaks down the BRCA1 tumour supressor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what is pharmacogenetics

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what is metabolsim

A

chemical alteration of drug to aid excretion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

what are external factors

A

diet and exercise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

what are internal factors

A

species, genetic make up, sex and age ect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

what is one size fits all pharmacology

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

how ineffective are antidepressants

A

up to 80%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

how ineffective are ACE ihibitors

A

for proteinuria and hypertesion
10-30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

how ineffctive are beta blockers

A

cardiac
15-25%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

what is pharmacogenomics

A

the whole genome application of pharamgentic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
what are the aims of pharamgenomics
- identify patients who will respond well - identify patients who will have adverse affect
26
how is pharmagenomics used in individualised medicine
use screening and patients stratificaton to look for specific SNPs associated with patient reponse
27
what are two exmaples of pharmacogenomics in individualise medicine
- CYP450 variants for warafin therapy - factor V leiden mutataion before oral contraception
28
what are case contriol studies
healthy vs disease or normal drug response vs adverse drug reposne
29
what are genome wide assocaition studies
compare large populations to ID fucntionally important SNPs or combnation SNPs (can also look at CNVs)
30
what are the promises of pharmacyogenomics
- improved drugs choses - safer doses - improvement in drug devlopement - decreased health care costs
31
what is the issue with primaquine
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
where are there higher rates of G-6-PD defiency
in malaria high high countries there are reports that suggest it could give protection
33
give exmaples of anti malrai druhgs
primaquine sulfanilamide
34
what is pharmakinetic varation
variation affecting drug metabolism/ transport (ADME)
35
what is pharmadynamic varation
varitaion affecting drug targets or assocaited pathways
36
what is the rare and unpredictable genetic variatoin
variation associated with idiosynthric pathways not related to the pharmacological properties of the drug usually immune mediated
37
what drug has to be metabolized to become cytotoxic
cyclophophamide is non toxic but when metaboilsied by CYP2B6 becoes cytotoxic
38
what needs to be considered in pharamkinetic varitation
- is parent or metabolite active - is genetic varaint causing an increase or decrease activtity
39
what does therpautic affect depend on
whetehr parent or metaolite is active
40
what is phase I metabolism
addition of functional groups making metabolites more polar
41
what reactions take place in phase I metbolims and which one the most
hydrolysis, oxidation and reduction oxidation most common by CYP450
42
what does phase I normally do
inactivate the drug
43
what happens to the product after phase I metbaolism
normally undergoes conjugation in pahse II
44
what does phase II include
sulphataion, glucuronidation, acteylation, conjugation to gluathiane
45
what does phase II produce
highly polar molecules ready for excreation, usaullly inactivates drugs
46
what drug does pahse II activate
morphin 6 glucorinide
47
what defect causes paralysis with suucinylcholine and what is SCC used for
used in theatre for incubation defect in butyrylcholinesterase can cause paralysis and repiratory faliure
48
what are the different variruanst of BCHE defeiciney
heterozygous- prolonged paralysis (3-4x) homozygous- prolonged paraylsis (3-4 hrs) Silent variant- associated with no cholinesterase activity from truncating mutations
49
what are the two enzymes involved in alchohol metabolsim
alcohol dehydrogenase (ADH) aldehyde dehyrodgase (ALDH) tehy exhibit genetic heterogenity there are multiple variants in both
50
what variant causes lower levels of ahcoholism
ADH1B*2 more active so quickly conmverts ethanol into toxic alcytaldehyde
51
what variant causes head and neck cancer from drinking
ALDH2*2 is loss of activty leading to toxic levels of acetaldehyde detected in the saliva
52
how big is the superfamilt for cyp450
57 genes
53
where is CYP450 mainlyt expressed
liver and GI tract
54
what are the three main families of cyp450
cyp1, cyp2 and cyp3
55
what is needed to convert codine to morphine
CYP2D6
56
CYP2C19
decreased and 0 actiivty alleles, metabolises antidepressants
57
what enzyme metabolises antidepressanyts
CYP2C19
58
CYP2C9
increased, decreased and 0 activity alleles, metabolises warfrin
59
what enzyme meatbolsies warafrin
CY2C9
60
CYP2D6
increased, decreased and zero activity metabolsies nortryptilline
61
what causes ultra rapid metabolism
gene amplification
62
what metabolsies nortryptilline
CYP2D6
63
for the genotype-phenotype relationship of CY2D6 what is the normal genotype
extensive metabolisms
64
what does CY2D6 activate
codine to morphine
65
what does CYP2D6 inactitivate
nortriptyline
66
what is the p450 CYP chip reposible for
used to dtermine genotypes for alleles of selevetd cyp genes
67
how do you test acetylator status
sulfadomide
68
what does tmpt affect
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)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions