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BECOM II Exam 5 > Pharmacogenomics > Flashcards

Flashcards in Pharmacogenomics Deck (13)
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1
Q

pharmacogenomics

A

study of genomic influence on drug response

2
Q

pharmacogenetics

A

study of individual gene-drug rxns

-usually 1 or 2 genes having dominant effect on drug response

3
Q

mutation

A

altering DNA sequence - rare in population

4
Q

polymorphism

A

altering DNA sequence - common in population

-affect >1%

5
Q

single nucleotide polymorphism

A

most common - marker for pinpointing disease or mapping therapeutic outcome

  1. coding nonsynonymous - changing base changes protein
  2. coding synonymous - changing base does NOT change protein
  3. noncoding
6
Q

indels

A

short repeats in the promote that add or subtract amino acids
-insertions/deletions

7
Q

copy number variation (CNVs)

A

genomic DNA involved in duplication, deletion, or inversion

8
Q

haplotype

A

combination of alleles or SNPs that tend to be inherited together - linkage disequilibrium
-determines the phenotype

9
Q

Beta2 adrenergic receptor polymorphisms

A

depending on haplotype of the patient, may not respond to albuterol to help relieve asthma
-may need to take more drug to have effect

10
Q

pharmacodynamics - simple mutation in drug receptor

A

can totally change the affect of the drug - change in drug target
-agonist –> partial agonist or vice versa for ex.

11
Q

pharmacokinetics polymorphisms

A

change in metabolizer enzyme function determines whether you get the therapeutic effect or side effects of the drug

  • Active drug: increase dose with UM and decrease dose with PM
  • Pro drug: decrease dose of UM and increase dose of PM
12
Q

cytochrome P450 enzymes

A
  1. CYP2D6 - metabolizes codeine to morphine
  2. 2C19 - metabolizes clopidogrel
  3. 2C9 - metabolizes warfarin (anticoagulant) - CYP2C92 and CYP2C93 are polymorphisms decreasing warfarin metabolism; VKORC1 also has polymorphisms
13
Q

NAT2

A

phase 2 enzyme who metabolizing effects may lead to a higher susceptibility to cancer
-found in liver - activates and deactivates many chemicals such as cigarettes