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13 Cards in this Set

  • Front
  • Back
Two big events resulting in more papers in polymorphisms
Advent of PCR and the 1st draft of the human genome.
BiDil
Drug uesd for heart failure in African American pts.
Synonymous polymorphism
Does not change coding amino acids
Nonsynonymous polymorphisms
Changes coding amino acids.
Pharmacogenetics
how a genetic variant affects a drug (its binding, activation, abs, distrib, metab and elim)
Pharmacogenomics
How a drug affects genomics (gene/protein expression)
Pharmacogenetics can affect...(2)
drug metabolism (p450s usually) or the drug target itself
Danger in lacking an enzyme with chemo agents
Can result in the accumulation of inactive metabolites leading to toxicity.
R212C gene
People with this gene have increased risk of adverse CV events.
Principles of genetic detection. Should be...
easy/quick
Low cost
reliable
large scale.
Pharmacoeconomic issues in genetic profiling
Narrow of drug market
Orphan drug syndrome
Orphan population syndrome.
Largest family of receptors?
G-proteins

(this is the R212C one that has implications with CV)

Can also affect asthma.
Smiley face - graphs
Polymorphisms of a receptor don't affect toxicity, because that is mediated at other spots.

So by pumping up the drug concentration, all people get the same increase in toxicity but there is an in terms of ther. effects for the people who have normal wt receptors.