Pharmacology - Pharmacogenomics (Exam 1)

Question 1

N-acetyltransferase 2 catalyzes the ___________ of numerous aromatic amine and hydrazine drugs

Answer 1

N-acetylation

Question 2

In N-acetylation polymorphism (N-acetyltransferase 2), what are slow acetylators predisposed to?

Answer 2

-peripheral neuropathy
-drug induced SLE
-urinary bladder cancer

Question 3

In N-acetylation polymorphism (N-acetyltransferase 2), what are rapid acetylators predisposed to?

Answer 3

-myelosuppression
-colorectal cancer

Question 4

What can help infer treatment outcomes?

Answer 4

ethnicity

Question 5

Thiopurine-S-Methyltransferase (TMPT) catalyzes the __________ of anticancer and anti-inflammatory drugs

Answer 5

deactivation

Question 6

What does a defect in Thiopurine-S-Methyltransferase (TMPT) cause after following standard doses of these drugs?

Answer 6

severe hematapoietic toxicity

Question 7

Uridine Diphosphate Glucuronosyltransferase (UGT) catalyzes the _________ of bilirubin, various drugs, and xenobiotics

Answer 7

glucuronidation

Question 8

What does a deficiency in UGT1A1-catalyzed bilirubin glucuronidation associated with 7 TA repeats in the promoter result in?

Answer 8

Gilbert’s syndrome

Question 9

What is Uridine Diphosphate Glucuronosyltransferase (UGT) polymorphism associated with?

Answer 9

increased toxicity (myelosuppression and diarrhea)

Question 10

CYP2D6 is a form of cytochrome P450 and it is important in the ________ of a wide variety of drugs

Answer 10

oxidation

Question 11

In CYP2D6 oxidation polymorphism, poor metabolizers yield an _________ of the parent drug for a wide variety of drugs like beta blockers, antiarrhythmics, antidepressants, and neuroleptics

Answer 11

accumulation

Question 12

In CYP2D6 oxidation polymorphism, the __________ and ________ of drugs metabolized to CYP2D6 substrates may also be affected

Answer 12

efficacy; toxicity

Question 13

In CYP2D6 oxidation polymorphism, poor metabolizers may be less sensitive to drugs that depend upon CYP2D6 to produce pharmacologically active metabolites, leading to ________ __________

Answer 13

therapeutic failure

Question 14

In CYP2D6 oxidation polymorphism, ultrarapid metabolizers may be _________ sensitive to toxic effects of metabolites produced via CYP2D6

Answer 14

more

Question 15

CYP2C9 catalyzes the oxidation of the anticoagulant ________, as well as other drugs including phenytoin, tolbutamide, and losartan

Answer 15

warfarin

Question 16

People who are homozygous for certain variant CYP2C9 alleles exhibit _______ reduction in Warfarin clearance, resulting in _________ complications

Answer 16

90%; bleeding

Question 17

CYP2C19 catalyzes the oxidation of __________, ____________, and ____________

Answer 17

clopidogrel; proton pump inhibitors; SSRIs

Question 18

In CYP2C19 oxidation polymorphism, poor metabolizers are at a high risk of __________ ________ due to insufficient levels of active metabolite. Therefore, they are at increased risk of heart attack, stroke, death, etc. due to Clopidogrel not working properly.

Answer 18

treatment failure

Question 19

Genetic trait defined by DNA sequences inherited from Mom and Dad (can be homozygous or heterozygous)

Answer 19

genotype

Question 20

A biologic or measurable expression of the genetic trait that is dependent upon the level of penetrance of the gene, the accuracy and selectivity of the method used to measure it, and the influence of environmental factors in the expression of the trait

Answer 20

phenotype

Question 21

Single letter is changed to a different letter

Answer 21

single nucleotide polymorphisms (SNPs)

Question 22

Sometimes, the function of a gene is not affected unless there are multiple changes all present within the gene. Scientists can group these changes together and give it a specific name or number

Answer 22

haplotype

Question 23

Beta-1 and beta-2 receptor polymorphisms have been shown to affect therapeutic response to beta-2 receptor ________ and _______.

This is the basis for treatment failure of beta-2 receptor therapy in patients with heart failure

Answer 23

agonists; antagonists

Question 24

What is another example of drug target (receptor) polymorphisms?

Answer 24

antipsychotic drugs

(not widely studied, but different patients have different responses)

Question 25

What do transport proteins influence?

Answer 25

absorption
distribution
excretion

Question 26

Hepatic uptake and elimination of statin drugs are facilitated by the solute carrier transporter family _______

Answer 26

1B1

Question 27

Changes in function of SLCO1B1 transporter can increase _________ concentration of statins and severity of statin-related muscle damage

Answer 27

plasma

Question 28

A polymorphism in SLCO1B1 increases systemic

Answer 28

muscle toxicity