CH 5- Pharmacogenomics

Question 1

Pharmacogenomics is?

Answer 1

-Personalized pharmacology
-Based on specific genetic testing
-Helps predict, explain, and treat

Question 2

Synonymous SNP is?

Answer 2

Silent mutation= does not change amino acids

Question 3

Non-synonymous ?

Answer 3

Changes amino acids

Question 4

Not functional: in 7% of Caucasians
Hyperactive in up to 30% of East Africans
Catalyzes metabolism of:
Beta-blockers: metoprolol,
Analgesic: codeine, tramadol

Answer 4

CYP2D6

Question 5

Understand

Question 6

Give an example of a medication that needs specific dosing per person and the mutation that may effect it. (anticoagulant)

Answer 6

Warfarin
CYP2C9 2 &3- have at least 1 copy = reduced metabolism= leading to higher warfarin concentrations

Racemic mixture: (S) 7-10x more potency than (R)

TESTING: Biomarker

Question 7

Give an example of a medication that needs specific dosing per person and the mutation that may effect it. (breast ca)

Answer 7

Trastuzumab (Herceptin) for breast Ca– targets HER2+ (stops proliferation; adjunct therapy)

HER2+ gene amplified = proteins for receptors increased (normally only has 2; 1:mom, 1:dad)

TESTING NEEDED: Biospy of tumor–> test protein & genetic testing more than 2 copies = Unequivocal (POSITIVE)