27. Pharmacogenetics

Question 1

What do mercaptopurine and azathioprine do?

Answer 1

Inhibit purine nucleotide synthesis

Cause myelosuppression

Question 2

What are mercaptopurine and azathioprine used to treat?

Answer 2

Leukemia
Post organ transplant
Rheumatoid arthritis

Question 3

What genotype is associated with the enzyme activity involved in breaking down mercaptopurine and azathioprine?

Answer 3

TMPT

Question 4

What does dosing according to the genotype allow for?

Answer 4

Reduced toxicity

Question 5

What is dosage of warfarin monitored by?

Answer 5

International Normalised Rate

Question 6

How does Warfarin work?

Answer 6

Inhibition of VKOR

Question 7

What enzymes is Warfarin monitored by?

Answer 7

P450: CYP2C9 and VKOR

Question 8

What is Stevens Johnson Syndrome?

Answer 8

Separation of the epidermis from the dermis

Adverse reaction to pharaceuticals

Question 9

What is Carbamazepine used to treat?

Answer 9

Epilepsy

Question 10

What region of a chromosome has links to causing Stevens Johnson syndrome as a reaction to Carbamazepine?
What sub-population is this test useful for?

Answer 10

HLA-B

Asian

Question 11

What are barriers to clinical integration of pharmacogenetic tests?

Answer 11

Yet to be studied
Responses not significant
Cost of testing
Time from testing to response
Integration of results
Logistics