Pharmacogenomics
Terms
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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?
- modification
- What happens in Phase II?
- conjugation
- Which CYP is responsible for the metabolism of tricyclic antidepressants, anti-arrhythmics, beta-blockers, neuroleptics, and opioids?
- CYP2D6
- What happens when CYP2D6 is mutated?
- enhanced toxicity
- Which CYP is responsible for metabolism of tolbutamid, warfarin, phenytoin, nonsteroidal anti-inflam?
- CYP2C9
- 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?
- CYP3A4
- What interfers with CYP3A4?
- Grapefruit juice
- Which enzyme is responsible for isoniazid toxicity, hydralazine induced lupus, sulfonamide hypersensitivity?
- NAT2
- 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