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STUVIA 2024/2025Chapter 4: Pharmacogenetics
A patient is diagnosed with Stevens-Johnson syndrome and the provider thinks this is related to an
HLA B*1502 variant that resulted in drug toxicity. The nurse would know that which of the following
medications is likely to blame:
a. Warfarin
b. Carbamazepine
c. Codeine
d. Irinotecan - ✔✔ANS: B
Persons with the human leukocyte antigen (HLA) B*1502 variant should avoid using carbamazepine
due to increased risk of developing Stevens-Johnson syndrome or toxic epidermal necrolysis.
Persons of Asian descent are most likely to carry this genetic variant.
Codeine and tramadol are prodrugs that require metabolism by which enzyme prior to providing
analgesic relief?
a. CYP2C19
b. CYP3A4
c. CYP2D6
d. CYP1A1 - ✔✔ANS: C
%
Codeine and tramadol are prodrugs that do not exhibit analgesic properties until converted to active
drug by the CYP2D6 enzyme in the liver. Nearly 10% of the population lack this drug-metabolizing
enzyme and therefore do not achieve pain relief with codeine or tramadol.
Gregor Mendel is known for which of the following?
a. First explaining the difference between dominant and recessive genes in
inheritance.
b. Discovering the structure of DNA.
c. Mapping roughly 25,000 genes in human DNA.
d. Coining the term pharmacogenomics. - ✔✔ANS: A
Gregor Mendel was the first to explain the difference between dominant and recessive genes in
inheritance, using pea flowers as an example. Watson and Crick were the first to describe the
structure of DNA. The Human Genome Project was completed in 2003 based on the work of many
scientists.
The FDA recommends genetic testing of which of the following for patients prior to initiating abacavir
due to a risk of potentially fatal multiorgan hypersensitivity in 6-10% of users?
a. CYP2C19
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