Pharmacogenomics part 1 Flashcards
(50 cards)
define pharmacogenomics
the study of genetic factors that underline variation in drug responses
basically the study of how genes affect a person’s response to drugs
____ + _____ = pharmacogenomics
pharmacology + genomics
true or false
both endogenous and exogenous factors cause variations in drug response
true
name 3 ways in which there have been advances in pharmacogenomics
human genome project
advances in sequencing
GWAS (large genome wide associated studies)
what is an allele
one of 2 or more alternate forms of a gene.
arise by mutation. found at the same genetic locus
give an example of an allele
CYP2D6*3 is a important variant allele for the drug metabolizing enzyme CYP2D6
what is allele frequency
the fraction or percentage of times a specific allele is observed in proportion to the TOTAL OF ALL POSSIBLE ALLELES that could occur at a specific location on a chromosome
what is another name for polymorphism
variant
define polymorphism
any genetic variation in the DNA sequence
what is SNP
single nucleotide polymorphisms
base pair substitutions that occur in the genome
what is cSNP
coding single nucleotide polymorphism
base pair substitutions that occur in the CODING REGION
what are insertions/deletions
insertions or deletions of base pairs
may occur in coding or noncoding regions
true or false
insertions or deletions of base pairs always occur in the coding region
false - may be coding or non coding region
what are copy number variations
a segment of DNA in which a variable number of that segment has been found
what are PM, IM, EM, UM
they are different phenotypes that exist due to polymorphism
PM = poor metabolizer
IM = intermediate metabolizer
EM = extensive metabolizer
UM = ultra rapid metabolizer
what is haplotype
a series of alleles found in a linked locus on a chromosome
explain the relationship between glucose transporters and polymorphism
a mutation in glucose transporters that causes them not to work properly will cause glucose to not be transported into the cell and remain in the blood, causing HYPERGLYCEMIA
polymorphism is defined as variations with a prevalence of the minor allele of at least ___% in at least ____ population(s)
at least 1-2% in at least 1 population
name the 4 classes of DNA polymorphisms
which is most common?
RFLP - restriction fragment length polymorphisms
VNTR - variable number tandem repeats
STR - short tandem repeats (1-8 base pairs)
SNP - single nucleotide polymorphism (*** most common)
what are the benefits of pharmacogenomics?
there will be improved drug choices because you can predict who is likely to have a therapeutic response or experience an adverse effect based on genetics.
-appropriate dosing options
-improvement for drug development
-health care costs and harm to pts decrease
rank the following according to the relative dose of drug they will receive:
-extensive metabolizers
-intermediate metabolizers
-poor metaboliers
-ultrarapid metabolizers
will receive the most dose: ultrarapid metabolizers
extensive metabolizers
intermediate metabolizers
will receive least dose - POOR METABOLIZERS
Which type of metabolizer is the most common?
extensive metabolizer (then intermediate)
how many whole gene deletions exist for all the types of metabolizers
PM = ~0
IM = ~0.5
EM = 1-2
UM = greater than or equal to 2
phase 1 enzymes are involved in the biotransformation of over what % of prescription drugs?
over 75%
