Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pharmacology > Pharmacogenetics > Flashcards

Pharmacogenetics Flashcards

1
Q

What are genes?

A

Unit of information encoding a specific trait

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

What is inheritance?

A

Transmission of traits from parent offspring

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

What is phenotype?

A

Physical manifestation of genetic information

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

What is pharmacogenetics?

A

The study of the genetic basis for the difference between individuals

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

What is polymorphism?

A

Genetic variation that occurs with a frequency >1% in ethnically diverse population

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

What are the different types of polymorphisms?

A

SNPs

Repetitive DNA sequences

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

What does polymorphism alter?

A

The expression level or conformation of a drug-related protein

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

What does the outcome of genetic variation depend on?

A

Where in the genome changes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What do SNPs result in?

A

Alteration in amino acid sequence of protein

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

What could happen to protein structures if a SNP occurs?

A

Phenotypic differences between the subjects, such as variation in response to medication

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What does SNP stand for?

A

Single nucleotide polymorphism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Why is pharmacogenetics important for pharmacy?

A

Patients can suffer adverse effects due to genetics
Adverse reactions can cause death
Severe adverse effects = withdrawal of blockbuster drugs

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

At what stages can genetic variation affect a patient’s response to a drug?

A

Metabolism
Target response
Catabolism + excretion

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

Why can metabolism be affected by genetic variation?

A

2 phases of drug metabolism
Phase 1 = cytochrome P450 enzymes
Phase 2 = enzymes controlling drug excretion

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

Why can target response be affected by genetic variation?

A

Process or pathway targeted responds differently

eg. Tyrosine kinase inhibitors

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

Why can catabolism + excretion be affected by genetic variation?

A

Individuals differ in the rate at which they clear active drug, can lead to adverse drug reactions

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

What are cytochrome P450s?

A

Major enzymes involved in drug metabolism + bioactivation

18
Q

What are differences in metabolism due to?

A

CY2D6 polymorphisms

19
Q

What codeine?

A

Commonly used opioid
Prodrug
Must be metabolised into morphine for activity

20
Q

Where is cytochrome P450 metabolising enzyme?

A

Liver

21
Q

What does a prodrug need to work?

A

Metabolism

22
Q

What is an active drug inactivated by?

A

Metabolism

23
Q

What happens if a prodrug has a poor metaboliser phenotype?

A

Poor efficacy

Possible accumulation of prodrug

24
Q

What happens if an active drug has a poor metaboliser phenotype?

A

Good efficacy
Accumulation of active drug can produce adverse effects
May need lower dose

25
Q

What happens if a prodrug has a ultra-rapid metaboliser phenotype?

A

Good efficacy

Rapid effect

26
Q

What happens if an active drug has a ultra-rapid metaboliser phenotype?

A

Poor efficacy

Needs greater dose or slow release formulation

27
Q

What is the main rate limiting step in TCA metabolism mediated by?

A

CY2D6 isoenzyme

28
Q

What happens if you have a functional impairment of CY2D6 isoenzyme?

A

Lead to toxic levels occurring

29
Q

What is the most widely prescribed oral anticoagulant drug?

A

Warfarin

30
Q

How is Warfarin activated?

A

By a coagulation test to ensure adequate yet safe dose is taken

31
Q

What serious adverse effects of Warfarin can occur?

A

Levels too high = haemorrhage

Levels too low = thrombosis or embolism

32
Q

What is Warfarin a mix of?

A

S- and R-warfarin

BOTH isoforms are active

33
Q

What is S-warfarin catalysed by?

A

Mainly CYP2C9

34
Q

What is R-warfarin catalysed by?

A

CYP1A2 + CYP3A4

35
Q

What are the 2 common CYP2C9 polymorphisms?

A

Arg144Cys

IIe358Leu

36
Q

What is genetic variation of Warfarin associated with?

A

Decreased CYP2C9 activity

37
Q

When is it more common to have decreased CYP2C9 activity?

A

Patients requiring a lower dose of Warfarin (increased risk of haemorrhage), shown to have 1 or more of these alleles

38
Q

What do the FDA recommend for before giving Warfarin?

A

Genotyping for CYP2C9 + VKORC1

39
Q

Describe azathioprine metabolism

A

Converted to 6-meracaptopurine

Converted to inactive form by xanthine oxidase + TPMT

40
Q

What is seen as the future of current medicine?

A

Personalised medicine

41
Q

What are the ethical implications of pharmacogenetics?

A

Do people want to know?
Will treatment be appropriate?
How informed does pharmacist need to be?
Who would have access to personal genetic info?

Pharmacology (40 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions