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PMCOL 200 Final > pharmacogenomics > Flashcards

pharmacogenomics Flashcards

1
Q

what is an ADR?

A

adverse drug reaction

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2
Q

WHAT IS THE 4TH leading cause of death?

A

adverse drug reaction

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3
Q

what contributes to differential response to medication? (5)

A
  1. pharmacogenetics
  2. demographic factors
  3. clinical factors
  4. dosing factors
  5. other factors
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4
Q

Name the ethnicity interaction of alcohol

A

flushing / palpitations in east asian descent

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5
Q

name the ethnicity interaction of hydralazine?

A

increased risk of heart failure in african-americans

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6
Q

T or F

We see more side effects in vulnerable groups

A

True

ex) old, babies, overweight, sick

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7
Q

T or F

glomerular filtration rate is lower in neonates

A

true

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8
Q

which enzymes - that are important for drug response - are low/not expressed in neonates?

A

CYPs and Phase II conjugating systems

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9
Q

what can be the results of regulatory variation?

A

increased expression

decreased expression

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10
Q

what can be the result of coding variation?

A

MISSENSE, stop/start loss, inframe insertion/deletion, frameshift etc

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11
Q

what can be the result of a splice-site variation?

A

create/ abolish acceptor site

create / abolish donor site

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12
Q

what is eQTL

A

expression quantitative trait loci

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13
Q

what is PGx

A

pharmacogenomics

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14
Q

what is precision health?

A

takes genetic and non-genetic factors into account

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15
Q

what is CYP2D6

A

metabolizing enzyme

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16
Q

why is CYP2D6 important for pharmacogenes

A

its polymorphic, can be variants to change its function

17
Q

codeine is converted to ______ by________

A

morphine, CYP2D6

18
Q

which drug can cause hearing loss?

A

ciplatin

19
Q

what is the significance of TCERG1L with respect to cancer treatment?

A

TCERG1L is functionally linked to cisplatin toxicity

20
Q

what is the other function of mercaptopurine and myelosuppression (other than cancer treatment)

A

AUTOIMMUNE DISEASES

21
Q

what is the adverse drug affect of myelosuppression ?

A

hematological toxicity

22
Q

what is the significance of TPMT (thiopurine methyltransferase) and cancer treatment?

A

alleles in this gene linked to the toxicity of mercaptopurine

23
Q

what is the significance of NUDT15 gene with respect to cancer treatment?

A

alleles in this gene linked to toxicity of mercaptopurine

24
Q

what is PharmGKB

A

provides curated info about human genetic variation and medications

25
Q

WHAT genes are implicated in 6-mercaptopruine toxicity

A

NUD15

TMPT

PMCOL 200 Final (11 decks)

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