Pharm Test 2 Pharmacogenomics

Front 1

Butyrylcholinesterase (BChE) Polymorphism

1)What does BChE do?
2)What do variations of BChE do?

Back 1

1)Hydrolyzes Ach and its analogs

2)decrease rate of metabolism of succinylcholine -> prolonged paralysis

Front 2

N-Acetyltransferase 2 (NAT2) Polymorphism

1)What does NAT2 Do?
2)What do people with Fast NAT2's do (fast acetylators)?
3)What do people with Slow NAT2's do (slow acetylators)?

4)Slow acetylators taking Hydralazine and Procainamide can get what toxicity?

5)Slow acetylators taking Isoniazid can get what toxicity?

Back 2

1)acetylates Isoniazid and other drugs

2)metabolizes isoniazid rapidly causing LOW blood drug levels

3)metabolizes isoniazid slowly causing HIGH blood drugs levels and adverse toxicities

4)Lupus
5)Neurotoxicity

Front 3

CYP2D6 Polymorphism

1)What does CYP2D6 do?
2)What group of people are poor metabolizers with CYP2D6?
3)If poor metabolizer, get adverse effects with which drug?
4)If poor metabolizer, what drug is ineffective?
5)What group of people are extensive metabolizers of CYP2D6?
6)What group of people are ultrarapid metabolizers?
7)If ultrarapid metabolizer, what adverse effect can you have?

Back 3

1)metabolizes large number of drugs
2)Homozygous Recessive Caucasians
3)Metoprolol
4)Codeine
5)are Homozygous/heterozygous (Wild Type)
6)have multiple copies of CYP2D6
7)Overdose on standard dose of codeine (resp depression)

Front 4

Thiopurine S-methyltransferase Polymorphism (TPMT)

1)What does TPMT do?

2)What is the TPMT*3A variant?

3)TPMT*3a variant is most common in which group of people?

Back 4

1)S-methylation of anticancer thiopurines (6-mercaptopurine, azathioprine)

2)have low TPMT activity -> inc risk of myelosuppression when treated with thiopurines (need to be treated with much lower dose)

3)Caucasians

Front 5

5-Lipoxygenase Polymorphism

1)What does it do?
2)What gene encodes it and how many repeat elements does it have?
3)What happens to homozygous patients that have more than the normal amount of repeats

4)What happens if less than normal of repeats

5)Do polymorphisms need to cause a disease to influence the treatment of a disease?

Back 5

1)produces leukotrienes from arachidonate

2)ALOX5; 5 repeats

3)get less 5-lipoxygenase enzymes and respond less well to treatment with 5-lipoxgenase inhibitors

4)absence of repeat alleles has no relationship on severity of asthma

5)NO!!!

Front 6

Epidermal Growth Factor Receptor (EGFR)

1)Over expressed in which cancers?

2)What drug is an inhibitor of tyrosine kinase and approved for treatment of Nonsmall Cell Cancers?

3)What group of patients respond most favorable to this drug? Why?

Back 6

1)Non Small Cell Lung Cancers

2)Gefitinib

3)East Asians (Japan); they have mutations in the ATP binding site of the tyrosine kinase

Front 7

Warfarin

1)Narrow or broad therapeutic window?

2)CYP2C9*2 and CYP2C9*3 variant alleles do what to Warfarin

3)CYP2C9*1 variant alleles do what to Warfarin

4)What is the molecular target for Warfarin
4)What is the VKORC1 gene

Back 7

1)Narrow

2)They have low activity, and require dec doses of warfarin for anticoagulation and have higher risk of hemorrhage

3)have high activity, and require inc doses of warfarin

4)Vitamin K epoxide Reductase

5)encodes for Vit K epoxide reductase, and thus affects warfarin dose requirements

Front 8

G6PD Deficiency

1)What is G6PD A- and what group is it in? Protective against what?

2)G6PD seen in what group?

3)If missing this enzyme, drugs cause what?

4)Which drugs cause this?

Back 8

1)get 90 percent reduction of G6PD enzyme; 10 percent of Africans, and protective against malaria.

2)Mediterranean, Middle East

3)oxidative stress on RBC -> hemolysis

4)Sulfonamides, Antimalarials, Acetaminophen, Ibuprofen