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38 Cards in this Set
- Front
- Back
What is the difference between a mutation and a polymorphism?
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the frequency of occurence
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What causes most dx?
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genetic polymorphisms or mutations or evironmental factors, with susceptibility to the hereditary factors
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What is a genetic polymorph or mutation that inc risk of dx if the evironmental factors are present?
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genetic risk factors
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What happens in Phase I?
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modification
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What happens in Phase II?
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conjugation
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Which CYP is responsible for the metabolism of tricyclic antidepressants, anti-arrhythmics, beta-blockers, neuroleptics, and opioids?
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CYP2D6
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What happens when CYP2D6 is mutated?
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enhanced toxicity
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Which CYP is responsible for metabolism of tolbutamid, warfarin, phenytoin, nonsteroidal anti-inflam?
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CYP2C9
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What happens when a patient with a CYP2C9 defect takes coumadin?
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excessive bleeding
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What is VKORC1?
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an enzyme with potential for polymorphism, involved in cloting process
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Which CYP is responsible for metabolizing the most drugs?
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CYP3A4
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What interfers with CYP3A4?
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Grapefruit juice
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Which enzyme is responsible for isoniazid toxicity, hydralazine induced lupus, sulfonamide hypersensitivity?
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NAT2
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What is clozapine used for?
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tx of schizophrenia
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Why isn't clozapine a great choice without pharmacogenomic testing?
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requires a lot of bld work because of agranulocytosis
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What causes chronic myelogenous leukemia?
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a translocation between 9 and 22?
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What does the abl-bcr gene produce?
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a constitutive protein kinase that P cyctoplasmic substrates that control growth and differentiation
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What is imatinib used for?
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tx of chronic myelogenous leukemia
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What does imatinib do?
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inhibits the bcr-abl tyrosine kinase
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What is the Her2-Neu receptor?
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it is for human epidermal growth factor 2
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What medication is used for her2 amplification?
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trastuzumab (herceptin)
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What is erythropoeitin used for?
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production of RBC in pt with kidney failure
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What is tissue plasminogen activator used for?
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thrombolytic drug for pt with MI or stroke
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What is entanercept used for?
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tx of RA by binding and sequestering TNF-alpha so it can't act on receptor
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What is NGF used for?
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stimulate nerve growth in AD
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What is cetuximab used for?
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colorectal cancer by inhibiting EGRF
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What is bevacizumab used for?
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colorectal and lung CA by blocking VEGF
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What is infliximab used for?
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TNF-alpha Ab--RA
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What is infliximab used for?
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TNF-alpha Ab--RA
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What is the adenovirus?
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a common virus
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What is the drawback of the adenovirus?
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very immunogenic causing inflammation, only persists for several months
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What is the adeno-associated virus?
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a small virus that affects many cells, doesn't elicit an immune response
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What are the draw backs of the adeno-associated virus?
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hard to generate titers sufficient to infect a large number of cells
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What is the benefit to a retrovirus?
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generates high titer, long lasting expression because it is incorporated into genome
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What is the drawback to the retrovirus?
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only integrated into dividing cells
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What is a lentivirus?
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type of virus associated with HIV
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What are the benefits of a lentivirus?
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it infects every cell type
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What is the benefit of heresvirus?
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it can infect neurons
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