CONDITIONS THAT IMPACT PK/PD TERMS A

Question 1

an alternative form of a gene at a given locus

Answer 1

allele

Question 2

a segment of DNA sequences that is transcribed into mRNA and translated into proteins

Answer 2

coding region

Question 3

the complete DNA sequence of an organism (the entire genetic makeup)

Answer 3

genome

Question 4

a segment of DNA sequences that do not encode proteins

Answer 4

noncoding region

Question 5

the study of genetic factors that underlie variation in drug response

Answer 5

pharmacogenomics

Question 6

genes that encode drug metabolizing enzymes, drug transport molecules, molecular targets

Answer 6

genetic factors

Question 7

need for unexpectedly high dose for usual effect

Answer 7

hyporeactivity

Question 8

need less drug for usual effect

-jot confused with hypersensitivity

Answer 8

hyper reactivity

Question 9

unpredicted reaction, not dependent on drug dosage, observed in small number of patients

• not an allergy
• examples: sulfonamides, phenytoin

Answer 9

idiosyncratic

Question 10

hyporeactivity due to prior exposure to drug

Answer 10

tolerance

Question 11

the compulsive need of an individual to use a drug to function normally

Answer 11

dependence

Question 12

tolerance that quickly develops over a few doses which may be due to:

• all spare receptors may be filled
• structural changes in the receptors
• increased metabolism
• down reg of the receptors

Answer 12

tachyphylaxis

Question 13

name this genetic variant:

a single nucleotide polymorphism that codes for the same amino acid when read out; DNA differs, but no change of function results

Answer 13

synonymous

Question 14

name this genetic variant:

a SNP that results in substitution of a different amino acid when read out; a change in function may result

Answer 14

non synonymous

Question 15

this is a genetic variant that is an insertion or deletion and can also alter protein function

Answer 15

indels

Question 16

this is an increase in the amount of DNA in a specific region of the chromosome

Answer 16

gene amplification

Question 17

5-10% of European and African derived populations are poor metabolizers

Answer 17

CYP2D6

Question 18

20% of Asians are poor metabolizers of this genetic variant?

Answer 18

CYP2C19

Question 19

PM have higher exposure to the active drug

shown to have improved treatment outcomes in treating gastric ulcer

proton pump inhibitor

Answer 19

omeprazole

Question 20

requires CYP2C19 to form the active metabolite (bioactivation)

PM have been shown to have increased rates of MI (after coronary stent placement)

antiplatelet

Answer 20

clopidogrel

Question 21

warfarin is metabolized by this genetic variant?

Answer 21

CYP2C9

Question 22

most common enzymopathy worldwide, 400 million people

causes RBCs to break down prematurely leading to hemolytic anemia
-patients present with yellowing of skin

i.e. primaquine must be avoided because its associated with hemolysis in G6PD deficient patients

Answer 22

G6PD deficiency

Question 23

this protein inactivates 6-MP which is the active metabolite of azathioprine (immunosuppressant)

Answer 23

thiopurine S-methytransferase

Question 24

most commonly prescribed medication for asthma

homozygotes for Arg16 allele higher incidence of tachyphylaxis with regular albuterol use

Answer 24

beta-agonists (albuterol)

Question 25

mutations on the ryanodine receptor on the sarcoplasmic reticulum in skeletal muscle cells

inhaled anesthetic gases or succinylcholine

• sustained muscle contraction
• hyperthermia, tachycardia, hypoxemia, tachypnea, hyperkalemia

treatment: dantrolene

Answer 25

malignant hyperthermia

Question 26

name this genetic allele

chemotherapeutic (colorectal, lung, gastric, gynecologic)\

this activates an active metabolite of irinotecan

patients with this are at increased risk of severe toxicities like neutropenia, diarrhea

FDA recommends lower starting dose for this

Answer 26

UGT1A1

Question 27

name this genetic allele

encodes for P-glycoprotein, widely distributed transporter protein

P-glycoprotein is an efflux pump

increased expression is _____

decreased expression is _____

Answer 27

ABCB1

more drug removal

less drug removal

Question 28

what age is considered elderly?

Answer 28

65 yrs of age and older