Exam 2 - Pharmacogenetics

Question 1

What is pharmacogenomics?

Answer 1

Use of genetic information to predict drug response in individual patients (ie, drug effectiveness and side effects)

Question 2

SNP’s

Answer 2

Single nucleotide polymorphism - Different combinations of single nucleotide polymorphisms (SNPs) are found in different individuals

Question 3

SNP Map

Answer 3

Location of SNPs on human DNA

Question 4

SNPs are used to:

Answer 4

create profiles that are associated with differences in response to a drug, such as efficacy and nonefficacy

Question 5

Spelling mistakes leave cells unable to break down drugs like Prozac, which then build up to toxic levels.

Answer 5

CYP2D6

Question 6

Spelling mistakes in this gene keeps you from metabolizing codeine to morphine

Answer 6

CYP2D6

Question 7

Makes an enzyme that metabolizes drugs. With one variant spelling, the enzyme is less active, so the anesthetic midozolam stays in the blood

Answer 7

CYP3A5

Question 8

Without it, you cannot metabolize thiopurine drugs like 6-mercaptopurine, the chemotherapy drug for childhood leukemia

Answer 8

TMPT

Question 9

One variant heightens response to asthma drug albuterol: another eliminates response, so the drug has no effect

Answer 9

Beta2AR

Question 10

Patients with one form of this enzyme-making gene seem to respond best to beta blockers

Answer 10

ACE

Question 11

Active drug

Answer 11

Enters the body in the active form and begins to have immediate effect

Enzymes convert the drug into an inactive form for excretion

Question 12

Pro drug

Answer 12

Enters the body in an inactive form

Enzymes convert the drug into an active form (metabolite)

Additional enzymes may convert the drug again for excretion

Question 13

Family of enzymes and the most important pathway known in drug metabolism:

Answer 13

CYP450 (includes CYP2D6)

Question 14

– very little or no enzyme
– reduced enzyme
– normal enzyme
– increased enzyme overnormal 
– increased enzymeover rapid metabolizer

Answer 14

Poor metabolizer (PM)
Intermediate metabolizer (IM) 
Normal metabolizer (NM)
Rapid metabolizer (RM) 
Rapid metabolizer (RM)

Question 15

CYP2D6*2 - Nomenclature

Answer 15

CYP - Cytochrome P
2 - Gene family 
D - Gene subfamily
6 - individual gene 
*2 - haplotype

Question 16

*2, *3, *4, etc…

Answer 16

Non/reduced functioning variant

Question 17

*1

Answer 17

Normal functional version (wild type)

Question 18

CPIC Level A

Answer 18

Genetic information should be used to change prescribing of affected drug

evidence is high or moderate in favor of changing prescription

Question 19

______ is converted to _____ by enzyme

Answer 19

Codeine

morphine

Question 20

*1xN, *2xN

Answer 20

duplication - Increased activity in enzyme