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39 Cards in this Set

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southern blot
detect DNA after electrophoresis
RFLP (restriction fragment length polymorphism) analysis
identify disease related genes using restriction digestions
amplify DNA; DNA primers used to amplify mRNA, readily allows for identification of mutations - deletions, insertions
FISH (fluorescence in situ hybridization)
identify gene location on a chromosome; fluorescently labeled DNA probes hybridized to human chromosomes to identify particular genes that might be in the wrong place or are amplified
SNP (single nucleotide polymorphisms)
DNA variations at a single base, average frequency of 1 per 1,000 base pairs
DNA arrays
glass slides that contain thousands of genes; fluorescently labeled RNA or DNA probes are hybridized to glass slides containing thousands of gene fragments, gauge expression level of mRNA
EST (expressed sequence tags)
small bits of RNA copied from each mRNA transcript from a specific tissue, sequenced, and loaded into a database; gene expression pattern
ELISA (enzyme linked immunosorbent assay)
titer proteins, identify/titer viruses
an alteration of DNA sequence that is present only rarely in the population (<<1%)
an alteration of DNA sequence that is present commonly in the population (> 1%)
phase I enzyme that metabolizes 20-25% of all drugs including anti-depresseants (tricyclics), anti-arrhythmics, beta-blockers, and neuroleptics. inactive in 2-10% of the population
phase I enzyme that metabolizes 15% of all drugs including tolbutamide, warfarin, phenytoin and NSAIDs. 40% of Caucasian population carry defective alleles.
anticoagulant used to prevent clotting after a heart attack, stoke, or major surgery. highly variable responses, danger=excessive bleeding (CYP2C9 alleles account for 10% variability)
vitamin K epoxide reductase (VKORC1)
clotting factor that is a key warfarin target, 25% of warfarin variability due to VKORC1
phase I enzyme that metabolizes 50% of all drugs, inhibited by grapefruit (bioflavonoids and furanocoumarins)
N-Acetyltransferase 2 (NAT2)
phase II enzyme, inactive in small percentage of population due to two mutant alleles identified by RFLP.
isoniazid = peripheral neuropathy
hydralazine = lupus
sulfonamide = hypersensitivity reactions
pharmacodynamic variability
drug variability due to polymorphisms/mutations at the site of drug action
Phase I
test in humans, small sample size to assess safety and dosage levels
Phase IIA
desired clinical effect and safety concerns are examined, small sample size, expensive
Phase IIB
further efficacy and dose ranging with a larger sample size
Phase III
very large sample size, millions of dollars, could take years
Phase IV
post-marketing follow-up to keep track of adverse events, large sample size
atypical antipsychotic for schizophrenia for patients who do not respond well to normal meds.
advantage=reduced extrapyramidal side effects
disadvantage=agranulocytosis in 2% of patients, could be fatal
Gleevac = imatinib
inhibits the Bcr-Abl tyrosine kinase that is constitutively turned on to reduce proliferation and activate apoptosis. FISH used to detect translocation resulting in longer chromosome 9 and shorter chromosome 22 (Philadelphia chromosome)
Herceptin = trastuzumab
humanized monoclonal antibody directed against the Her2 (human epidermal growth factor receptor) elevated in a sub-set of breast cancer patients. FISH analysis to determine gene amplification.
Increases risk of congestive heart failure.
Epogen = erythropoietin = recombinant protein
recombinant protein that stimulates production of red blood cells, used to treat chronic kidney failure on dialysis
Activase (tissue plasminogen activator) = recombinant protein
thrombolytic agent indicated for patients who have had a heart attack or stroke
Etanercept (Tumor necrosis factor, alpha) = Enbrel = recombinant protein
soluble TNF-alpha receptor used to treat rheumatoid arthritis, can bind TNF-alpha fused to parts of human immunoglobulins
Nerve growth factor (NGF) = recombinant protein
stimulates nerve growth, used in neuronal degenerative diseases
Parkinson's, viral delivery of glial derived neurotrophic factor (GDNF)
cetuximab (Erbitux)
chimeric monoclonal antibody against EGFR used to treat solid tumors associated with colorectal cancer by inhibiting signaling.
Risk=skin eruption
bevacizumab (Avastin)
humanized monoclonal antibody against vascular endothelial growth factor (VEGF) used to treat colorectal and lung cancers by reducing angiogenesis and inhibiting tumor growth.
Risks=HTN, bleeding, thrombosis, and proteinuria
viral delivery
indicated in diseases where expressing something extra is beneficial,
1.diseases caused by lack of enzyme activity, cystic fibrosis and X-SCID
2.diseases in which provision of a growth factor is beneficial, Parkinson's
most commonly used viral delivery vector
A=high titer stocks, infects most cells
D=very immunogenic, infection only persists for several months, virus does not integrate
adeno-associated virus (AAV)
A=small virus that infects many cell types, no immune response, persists many months, may integrate
D=difficult to generate titers sufficient to infect cells
vector type used to treat immune deficiencies
A=generated in high titer, readily integrates into dividing cells, long lasting
D=only integrates into dividing cells, site of integration unpredictable
type of virus associated with HIV
A=infects virtually every cell type (including neurons), transgene expression persists for years, easy to generate high titer, harmful HIV genes removed
D=site of integration unpredictable
A=infects neurons
D=large and difficult to use, interest declined w/lentivirus
antisense oligonucleotide (ASO)
single-stranded chemically synthesized DNA-like molecule 17-22 nucleotides in length designed to be complementary to selected gene mRNA...decreased mRNA leads to inhibition of expression of that gene
RNA interference (siRNA)
commercially synthesized dsRNA 21-27 nucleotides that are recognized by RISC. Complex finds mRNA that matches associated siRNA and degrades leading to reduced expression of protein...gene silencing.