PHRD5915 Drug Design Lecture 7 - Pharmacogenetics & Pharmacogenomics

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daynuhmay
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274071
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PHRD5915 Drug Design Lecture 7 - Pharmacogenetics & Pharmacogenomics
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2014-05-11 22:37:13
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Pharmacogenetics Pharmacogenomics
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Pharmacogenetics & Pharmacogenomics
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  1. what the body does to the drug (disposition)
    pharmacokinetics
  2. what the drug does to the body (response)
    pharmacodynamics
  3. study of the relationship between single gene variants & variability in drug disposition, response, & toxicity
    pharmacogenetics
  4. study of the relationship between variants in a large collection of genes (up to the whole genome) and variability in drug disposition, response, & toxicity
    pharmacogenomics
  5. difference in the DNA sequence compared with a reference sequence
    genetic variant (variation)
  6. genetic variation that is common (occurs in 1% of the population)
    polymorphism
  7. genetic variation that is rare (occurs in <1% of the population)
    mutation
  8. variable number of nucleotides that are repeated
    repeat polymorphism
  9. abnormal number of copies of one or more DNA regions (eg: gene duplication or deletion)
    copy number variation (CNV)
  10. a variant here may alter TF binding & increase or decrease gene transcription
    promoter
  11. a variant here may change a codon sequence resulting in a different amino acid or premature stop codon (may also have no effect)
    exon
  12. a variant here is least likely to have an effect, but it may have functional consequences if they are linked to other variants in the gene
    intron
  13. a variant here may alter the site of splicing and result in a transcript that lacks exons or contains pieces of introns
    in an intron-exon splice junction
  14. a variant here may alter mRNA stability, structure, or degradation
    in the 3' UTR
  15. DNA sequence at a particular location on a chromosome
    allele
  16. 2 alleles at 1 location in DNA
    genotype
  17. alters pharmacokinetics leading to variability in efficacy/toxicity
    drug metabolizing enzymes
  18. alters pharmacodynamics leading to variability in efficacy/toxicity
    drug targets
  19. how decreased metabolizing enzyme fcn affects 
    1) drug clearance
    2) plasma concentrations
    • 1) decreased drug clearance
    • 2) increased plasma conc
  20. if a genetic polymorphism results in multiple copies of a metabolizing enzyme gene, how does this affect:
    1) efficacy
    2) drug clearance
    • 1) decrease efficacy (metabolize faster)
    • 2) increase clearance (excreted faster)
  21. metabolizes S-enantiomer of warfarin
    CYP2C9
  22. CYP2C9 *1
    wild type
  23. CYP2C9 *2
    decreases CYP2C9 activity to 60-70%
  24. CYP2C9 *3
    decreases CYP2C9 activity to 5%
  25. in regards to warfarin, CYP2C9 polymorphisms are associated with ...
    decreased warfarin clearance
  26. (4) difficulties in pharmacogenomic analysis (compared to pharmacogenetics)
    • 1) polygenic
    • 2) polymorphisms result in subtle effects
    • 3) lack of distinct phe dist
    • 4) difficult to measure phe's
  27. enzyme inhibited by warfarin
    VKOR (vit. K epoxide reductase)
  28. effect of VKOR inhibition by warfarin
    prevention of vit K recycling -> prevents production of fcnal clotting factors
  29. VKOR1 genotype assoc'd w/ highest decrease in VKOR
    A/A

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