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7 Cards in this Set

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what will pharmacogenetics allow?
2 million people get really sick every year from normal prescriptions. also, a lot of prescriptions aren't approved because a subset of people get sick from them.

we'll have more drugs and better dosing.
what can genetics have to do with drugs? why is succnylcholine particularly interesting here?
change absorption rate, metabolism, elimination, and variations in the receptors that the drug is targeting.

succnylcholine is a muscle relaxant that's broken down by pseudocholinesterase, a plasma enzyme. note that there's a great amount of variability in the activity of this enzyme between people. Can lead to apnea.
what's the issue with glucose 6 phosphate dehydrogenase deficiency?
if you give pimaquin or other anti-malarials, get extreme hemolytic anemia. especially common in black males.
what's the acetylator phenotype and what drugs/diseases can be associated with it?
slow acetylators: they have a varient in acetyltransferase.

40-60% of caucasiand, 80% of arabs, and 20% of japanese.

Procanamide is one drug that ends up in too high a concentration, and we know that they can experience lupus-like symptoms with neuritis and bladder cancer.

also, isonaiozide - this is anti TB and people who are slow acetylators can end up with peripheral neuropathy.

note that this probably also applies to sulfa drugs and dapsone
how is 5-flouro-uracil changed by genetics?
dihydro pyramadine dehydrogenase deficiency (DPD) is a condition seen in between 1 and 3% of cancer patients.

makes the half life from 13 minutes to 160 minutes, so get a lot of toxcisity from it. screws up BM and GI.
what is gleevec, what disease does it treat, and what's its mechanism of action?
gleevec is used to treat CML.

Remember that CML is often caused by a "philadelphia" chromosome - a fusion of 9:22 translocation.

Get the Bcr-Abl fusion protein made.

Gleevec blocks the action of the Bcr-Abl
what do we test for in warfarin dosing?
variants in CYP 29c and VKORc1