Pharmacogenomics I Flashcards
definition: pharmacogenomics
study of how the genome can influence responses to drugs
definition: monogenic drug response
variation in a single gene causing difference in specific drug response
definition: multigenic drug response
variations in multiple genes causing difference in a specific drug response
variation in a single gene causing difference in specific drug response
monogenic drug response
variations in multiple genes causing difference in a specific drug response
multigenic drug response
definition: gene by environment phenotype
drug response is a complex interplay between environment and genetic factors
definition: SNP
one nucleotide in a gene is changed
where are SNPs located in the genome?
protein coding region
synonymous SNPs
base pair change does NOT cause amino acid substitution
nonsynonymous SNPs
base pair change leads to an amino acid substitution
base pair change does NOT cause amino acid substitution
synonymous SNP
base pair change leads to an amino acid substitution
nonsynonymous SNP
what are copy number variants (CNVs)?
complete deletion or duplication of a particular gene
definition: cosmopolitan polymorphisms
polymorphisms common across all ethnic groups
polymorphisms common across all ethnic groups
cosmopolitan polymorphisms
definition: population polymorphisms
polymorphisms that differ between groups (ethnic or race)
polymorphisms that differ between groups (ethnic or race)
population polymorphisms
definition: pharmacological traits
any measurable trait associated with a drug (phenotype)
what is the benefit of pharmacological traits?
sum of all genes gives rise to an effect
what is the disadvantage of pharmacological traits?
non-genetic influences give rise to unstable responses
what is the phenotype to genotype approach?
start out by directly measuring pharmacogenetic trait, and genotype individuals from each groups to determine differences in DNA sequence
what is the candidate gene approach?
determine polymorphisms by genotyping a specific gene that is predicted to cause differences in pharmacogenetic trait between the two groups
what is the disadvantage of the candidate gene approach?
wrong gene might be studied
what is the disadvantage of the genome wide approach?
identification that does not matter
what is the genome wide approach?
unbiased survey of all differences in entire genome between two groups