Brainscape's Knowledge GenomeTM

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


See full index

Pharmacology > Personalized Medicine > Flashcards

Personalized Medicine Flashcards

1
Q

what are different responses to a single dose

A
  1. hyperractive

2. hyporeactive

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

pharmacokinetic

A

changes in the disposition of the drug that influence the relative concentration of the drug in the body

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

pharmacodynamic

A

changes in cellular sensitivity

change in receptor # or function

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

name examples of pharmacodynamics

A
  • desensitization (down regulation or refractoriness)
  • supersensitivity
  • malfunction
  • changes in other components of the cellular response (“downstream”) from the drug-receptor interaction
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

changes in the [ ] of an endogenous ligand may affect response to

A

antagonists

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

what is tolerance

A

a condition in which increasing disease of a drug are required to generate the same effect

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

see diagrams: slide 5 &6

A

see diagrams: slide 5 &6

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

what is pharmacogenomics

A

the study of how inherited genetic differences in humans influence individual response to drugs

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

genetic factors are the major determinants of what

A

normal variability of drug effects and are responsible for a # of striking quantitative and qualitative differences in pharmacological activity

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

the phenotype is influenced by what other factors

A
  • age
  • sex
  • disease state
  • smoking
  • alcohol
  • diet
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

if the mutation is relatively common (more than 1%) it creates a

A

polymorphism

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

what are the objectives of pharmacogenomics

A
  1. identify variation in human drug response
  2. elucidate the molecular mechanisms
  3. evaluate the clinical significance
  4. develop genetic screening test
  5. individualize treatment and drug therapy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

what are the major categories of variant responses

A
  • drug metabolism
  • drug transporters
  • direct targets (receptors)
  • indirect targets (other components affecting response or adverse reactions)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

how many nucleotide bases does the human genome contain

A

~3 billion chemical nucleotide

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

the average gene consists of how many bases

A

3000 bases but sizes vary greatly with the largest known human gene being dystophin at 2.4 million bases

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

the total number of genes is estimated at

A

30,000

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

–% nucleotide bases are exactly the same in all people

A

99.9%

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

the function of over –% of discoveredgenes is unknown

A

50

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

what is polymorphism

A

-a variation in which one in every 1000 bases is different in any 2 humans

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

polymorphism is a result of

A

several types of mutations

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

polymorphism in specific genes can lead to

A

difference in response to drugs

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

what is an allele

A

an alternative form at a genetic locus on a single chromosome

23
Q

for loci in most of the genome, a human has – chromosomes which carry –

A

2

carry the same alleles or 2 different alleles

24
Q

what is a genotype

A

alleles present in an individual

25
Q

cystic fibrosis genotype

A

deletion of nucleotides encoding phenylalanine in CFTR gene

26
Q

what is a phenotype

A

physical manifestation of the genotype

27
Q

cystic fibrosis phenotype

A

chronic respiratory infection, mucus build-up, fat maldigestion

28
Q

what are potential uses of genomics for therapy

A
  • Individualized gene therapy for preventive/treatment measures (future)
  • Identify genes conveying risk for development of chronic disease; implement preventive measures (future)
  • Understand disease pathophysiology; identify new diagnostic or therapeutic targets (ongoing)
  • Improve the drug development process (ongoing)
  • Improve the clinical risk/benefit profile of therapeutic agents (here and now)
  • Direct drug therapy and dose (here and now)
29
Q

genetically polymorphic P450s are associated with what

A

changes in drug effects

30
Q

59% of commonly prescribed drugs are metabolized by enzymes with

A

polymorphic alleles

31
Q

metabolizer classifications

A
  1. poor metabolizer
  2. intermediate metabolizer
  3. extensive metabolizer
  4. ultra-rapid metabolizer
32
Q

poor metabolizer

A

has 2 defective alleles and lacks functional enzyme

33
Q

intermediate metabolizer

A
  • heterozygous for one functional and one deficient allele

- has 2 partially defective alleles that cause reduced metabolism

34
Q

extensive metabolizer

A
  • 2 normal alleles
  • often majority of population
  • “normal” metabolizers
35
Q

ultra-rapid metabolizer

A

-duplicated or multiduplicated functional alleles with extremely high metabolic capacity

36
Q

conversion of codeine to morphine is partially dependent on

A

CYP2D6

37
Q

function if CYP2D6

A

genotype partially determines analgesic effect of codeine

38
Q

poor metabolizers (PM) have low

A

CYP2D6 activity and do not efficiently convert codeine into morphine

39
Q

ultra-rapid metabolizers (UM) have high

A

CYP2D6 activity and rapidly convert codeine into morphine

40
Q

what is warfarin

A

inhibits synthesis of vit K dependent clotting factors

41
Q

what are the polymorphic genes affecting warfarin metabolism

A

CYP2C9

VKORC1

42
Q

allelic frequencies are usually associated with

A

ethnicity

43
Q

see diagrams: slide 22-23

A

see diagram: slide 22-23

44
Q

> 50% of the variability in the warfarin dose may be explained by

A

polymorphism in CYP2C9 and VKORC1

45
Q

the maintenance warfarin dose can estimated from

A

clinical and pharmacogenetic factors that can be obtained at the the time of warfarin initiation

46
Q

what are carbamazepine ADRs

A

dangerous or even fatal skin reactions caused by carbamazepine therapy

47
Q

carbamazepine ADRs are more common in patients with

A

a particular human leukocyte antigen (HLA) allele, HLA-B*1502

48
Q

allele HLA-B*1502 occurs mostly in patents with ancestry across broad areas of

A

Asia, including South Asian Indians

49
Q

see slides 26-27

A

see slides 26-27

50
Q

examples of pharmacogenomic information supplied and test recommended

A
  • mercaptopurine (TPMT deficiency)
  • irinotecan (UGT1A1*28 allele)
  • atomoxetine (CYP2D6 variants)
  • tamoxifen (CYP2D6 variants)
51
Q

tumor tissue tested for

A

somatic mutation before prescribing selected drugs

52
Q

tumor therapy: pharmacogenomic information supplied and test recommended examples

A

cetuximab (EGFR expression)

trastuzumab (Her2/neu overexpression)

53
Q

see slide 30

A

see slide 30

54
Q

FDA list of approved biomarkers

A
  • drug exposure and clinical response variability
  • risk for adverse events
  • genotype-specific dosing
  • mechanisms of drug action
  • polymorphic drug target and disposition genes

Pharmacology (23 decks)

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