Ch. 11 Pharmacogenomics Flashcards

1
Q

Purines

A

Adenine

Guanine

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2
Q

Pyrimidines

A

Thymine

Cytosine

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3
Q

Haplotype

A

A group of genes or DNA variations inherited from a single parent that exist on the sam chromosome and are likely to be inherited together

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4
Q

Single nucleotide polymorphism (SNP)

A

A change in a single nucleotide in a genetic sequence. Most common genetic polymorphism in DNA. Responsible for the majority of individual variability in response to a drug

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5
Q

Mutation associated with Abacavir

A

HLA-B*5707 (if positive DO NOT USE)

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6
Q

Type of reaction associated with HLA-B*5707

A

Fatal hypersensitivity

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7
Q

Drugs that contain abacavir

A

Epzicom
Triumeq
Trizivir

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8
Q

Mutation associated with Allopurinol

A

HLAB*5801 (if positive DO NOT USE)

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9
Q

Type of reaction associated with HLA-B*5708

A

Increased risk of SJS

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10
Q

Population to test prior to use of allopurinol

A

Patients with significant renal impairment or those with Han Chinese or Thai ancestry

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11
Q

Mutation associated with Carbamazepine and phenytoin/fosphenytoin

A

HLA-B*1502 (if positive DO NOT USE)

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12
Q

Type of reaction associated with HLA-B*1502

A

SJS, TEN

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13
Q

Population to test prior to starting carbamzepine

A

All Asian patients

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14
Q

Mutation associated with Clopidogrel

A

2C192/3 (if pt has the allele, consider alternatives)

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15
Q

Effect of therapy in patients with 2C19 mutation in clopidogrel use

A

Poor metabolism of clopidogrel (as it is a prodrug) and increased cardiovascular events

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16
Q

CYP450 enzyme associated with Codeine metabolism

A

2D6

17
Q

Codeine use in 2D6 ultra-rapid metabolizers

A

Increase in production of morphine, resulting in toxicity

18
Q

Codeine use in 2D6 poor metabolizers

A

Lack of efficacy

19
Q

CYP450 enzyme associated with use of Warfarin

A

2C92/3 and VKORC1

20
Q

Effect of warfarin in patients expressing 2C92/3 and/or VKORC1

A

Increased bleeding risk, lower dose if variations of alleles are present

21
Q

Gene expression needed in those to start Trastuzumab therapy

A

HER2 overexpression

If tumor is HER2 negative, do not use

22
Q

Cetuxumab and panitumumab gene mutation

A

KRAS

23
Q

If a patient is KRAS positive, they cannot use

A

Cetuximab and panitumumab

24
Q

Gene associated with AZA use

A

TPMT

25
Q

Low/absent TMPT activity in AZA use can cause

A

Myelosuppression

26
Q

Enzyme associated with Capecitabine and Fluorouracil use

A

Dihydropyrimidine dehydrogenase (DPD)

27
Q

Deficiency in DPD and use of Capecitabine and Fluorouracil can cause

A
Increased toxicity (diarrhea, neutropenia, neurotoxity)
Do not use in patients with DPD deficiency
28
Q

If a patient produces less VKORC1, they require

A

A lower dose of warfarin

29
Q

Which isomer type of warfarin is better metabolized by 2C9?

A

S-isomer is more potent than the R isomer