GEN #29 PG Intro

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  1. The first pharmacogenomics studies were on variable __________ effects on neuromuscular blockade and __________ neurotoxicity
    • succinylcholine
    • isoniazid
  2. the science that examines the inherited variations in genes that determine drug responses is
  3. variability with regards to pharmacokinetics parameters is
  4. Pharmacogenomic includes individualizing the dose based on variability in _____________ and _________
    • molecular targets
    • other PD parameters
  5. Isoniazid is activated by the
    multifunctional catalase-peroxidase KatG
  6. Isoniazid is inactivated by __________ by _____________
    • acetylation
    • hepatic arylamine N-acetyltransferase
  7. Vitamin K epoxide reductase (complex subunit 1) is coded for by the
    VKORC1 gene
  8. Severe neurological effects observed in ___________ of isoniazid
    slow acetylators
  9. debrisoquine elimination is due to variability in __________ or _________
    • debrisoquine hydroxylase
    • CYP2D6
  10. DNA for any two humans varies by _________________
    ~ 1 base/1000 bases
  11. Types of Genetic Variants include
    • SNPs
    • indels (insertions & deletions)
    • copy number variations
  12. A ______________ substitution that arises in >1% of the population is called a single nucleotide polymorphism (SNP).
    single base-pair
  13. 66% of the SNPs are _____________ substitutions
    C -> T
  14. Base change -> change in protein amino acid
    Nonsynonymous SNP
  15. a silent polymorphism that where the substitution does not change the final amino acid in the protein – however can still get alteration in the functional protein
    Synonymous SNP
  16. the nucleotide substitution results in a stop codon being introduced
    Premature Stop Codon SNP
  17. Protein chain synthesis is terminated and a shortened protein is produced
    Premature Stop Codon SNP
  18. If at least two genes or SNPs are located near each other, then they will tend to stay together through recombination
    Linkage Disequilibrium
  19. one can use the presence of one SNP to infer the presence of other SNPs if they all show strong linkage disequilibrium. This called a _____________
    tagging SNP
  20. The S-form of warfarin is metabolized by __________
  21. VKORC1 gene codes for
    Vitamin K epoxide reductase (complex subunit 1)
  22. __________ are responsible for PK genetic variability for warfarin
    CYP2C9 polymorphisms
  23. ____________ are responsible for PD genetic variability for warfarin
    VKORC1 polymorphisms
  24. How many alleles of CYP2C9 are known to cause reductions in enzyme activity for warfarin
  25. how many SNP haplotypes of the VKORC1 gene have been shown to be associated with modified functional activity of the enzyme complex
  26. VKORC1 hapotypes contain 30 SNPs in the __________ region of the gene
  27. In regards to warfarin dosing, 5 of the SNPs of the VKORC1 were found to exhibit strong _____________ forming two haplotypes
    linkage disequilibrium
  28. Using an algorithm including pharmacogenetic
    information for ______ and _________ is more accurate in targeting treatment to a defined INR for warfarin dosing
    • CYP2C9
    • VKORC1
  29. A change in bases pairs that results in a change in amino acid sequence is
    nonsynonymous SNP
  30. A change in base pairs that does not alter the final amino acid sequence is
    synonymous SNP
  31. A change in base pairs that result in -->TAG is
    premature stop
  32. An example of an allele with a premature stop codon is
  33. In order for SNPs to be tagging SNPs, they must show ______
    linkage disequilibrium
  34. What is responsible for PD variability in warfarin dosing?
    vitamin k epoxide reductase complex subunit 1 polymorphisms
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GEN #29 PG Intro
2012-04-13 14:43:18

GEN #29 PG Intro
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