Pharmacogenetic

Question 1

Define synonymous single nucleotide polymorphisc

Answer 1

within coding regions

• base pair change DOES NOT cause aminoa cid substitution
• May result in decreased transcript stability or alter splicing
  
  • this can lead to changes in protein expression and/or function

Question 2

# Define nonsynonymous
 SNP

Answer 2

in coding regions

• base pair changes LEADS TO AN AMINO ACID SUBSTITUTION
  
  • may result in change in proteins tructure, stability, substrate affinity, introduction of stop codon

Question 3

Describe insertions and deletions (INDELS)

Answer 3

• Addition or loss of genetic material
  
  • can lead to FRAMSHIFT (change in which the DNA is read)
    
    • change in the amino acid sequence of a protein
    • introduction of stop codon
    • ALTER promoter or enhancer and result in an increase transcript quality

Question 4

Copy number variations

Answer 4

• CNVs refer to either complete DELETION or DUPLICATION of a particular gene
• GAIN of function or loss of function

Question 5

describe pharmacokinetic of pharmacogenetic phenotypes

Answer 5

• effect of a polymoprhism in a gene or genes that REGULATE PHARMACOKINETICS
• metabolic enzymes or drug transporters
• ALTERS DRUG CONC resulting in changes in therapeutic and adverse effects

Question 6

Pharmacodynamic of pharmacogenetic phenotypes

Answer 6

• effect of polymorphism in gene that codes for DRUG TARGETS such as RECEPTORS OR ENZYMES
• can impair or enhance drug binding
• ALTERS DRUG RESPONSE

Question 7

describe INDIRECT pharmacogenetic phenotypes

Answer 7

• the effects of polymorphisms in a gene that DOES NOT INTERACT with the drug, not involved with disposition of the drug

Question 8

Candidate gene approach

Answer 8

• determine polymorhpism by genotyping a specific gene that is predicted to cause differences in pharmacogenetic trait between the two groups
• REQUIRES KNOWLEDGE OF CELLULAR MECH
• DISADVANTAGE = wrong gene might be studied

Question 9

GENOME-WIDE APPROACH

Answer 9

• Does NOT require knowledge of cellular mech responsible for trait
• unbiased survery of all difference in entire genome betwen two groups
• DISADVANTAGE is identification that does not matter