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What is the difference between a mutation and a polymorphism?
the frequency of occurence
What causes most dx?
genetic polymorphisms or mutations or evironmental factors, with susceptibility to the hereditary factors
What is a genetic polymorph or mutation that inc risk of dx if the evironmental factors are present?
genetic risk factors
What happens in Phase I?
What happens in Phase II?
Which CYP is responsible for the metabolism of tricyclic antidepressants, anti-arrhythmics, beta-blockers, neuroleptics, and opioids?
What happens when CYP2D6 is mutated?
enhanced toxicity
Which CYP is responsible for metabolism of tolbutamid, warfarin, phenytoin, nonsteroidal anti-inflam?
What happens when a patient with a CYP2C9 defect takes coumadin?
excessive bleeding
What is VKORC1?
an enzyme with potential for polymorphism, involved in cloting process
Which CYP is responsible for metabolizing the most drugs?
What interfers with CYP3A4?
Grapefruit juice
Which enzyme is responsible for isoniazid toxicity, hydralazine induced lupus, sulfonamide hypersensitivity?
What is clozapine used for?
tx of schizophrenia
Why isn't clozapine a great choice without pharmacogenomic testing?
requires a lot of bld work because of agranulocytosis
What causes chronic myelogenous leukemia?
a translocation between 9 and 22?
What does the abl-bcr gene produce?
a constitutive protein kinase that P cyctoplasmic substrates that control growth and differentiation
What is imatinib used for?
tx of chronic myelogenous leukemia
What does imatinib do?
inhibits the bcr-abl tyrosine kinase
What is the Her2-Neu receptor?
it is for human epidermal growth factor 2
What medication is used for her2 amplification?
trastuzumab (herceptin)
What is erythropoeitin used for?
production of RBC in pt with kidney failure
What is tissue plasminogen activator used for?
thrombolytic drug for pt with MI or stroke
What is entanercept used for?
tx of RA by binding and sequestering TNF-alpha so it can't act on receptor
What is NGF used for?
stimulate nerve growth in AD
What is cetuximab used for?
colorectal cancer by inhibiting EGRF
What is bevacizumab used for?
colorectal and lung CA by blocking VEGF
What is infliximab used for?
TNF-alpha Ab--RA
What is the adenovirus?
a common virus
What is the drawback of the adenovirus?
very immunogenic causing inflammation, only persists for several months
What is the adeno-associated virus?
a small virus that affects many cells, doesn't elicit an immune response
What are the draw backs of the adeno-associated virus?
hard to generate titers sufficient to infect a large number of cells
What is the benefit to a retrovirus?
generates high titer, long lasting expression because it is incorporated into genome
What is the drawback to the retrovirus?
only integrated into dividing cells
What is a lentivirus?
type of virus associated with HIV
What are the benefits of a lentivirus?
it infects every cell type
What is the benefit of heresvirus?
it can infect neurons

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