1-22-25 Flashcards
lecture 3 yyPGx basic concepts
how would you solve for the number of T alleles in a population?
2Q (which is the number of persons with T/T) + R (which is the number of persons with T/C)
how would solve for the percent of T alleles in a population?
(2Q+R) / 2N
what does it mean if a person is an UM?
ultrarapid metabolizer
1/17 or 17/17
normal or increase activity
what does it mean if a person is an EM?
extensive metabolizer
1/1 genotype
normal activity (most pts)
what does it mean if a person is an IM?
intermediate metabolizer
has a functional allele (*1 or 17) and a loss of function allele (2)
what does it mean if a person is a PM?
poor metabolizer
has only *2 or *3 alleles which are LoF
how should dosing change for clopidogrel in IM and PMs?
consider alternative antiplatelet agents such as prasugrel or ticagrelor
what are the different names of an allele with a higher frequency?
common
major
reference
what are the different names of an allele with a lower frequency?
rare
minor
mutant
what is a haplotype?
a group of genes within an organism that were inherited together from a single parent
what is a linkage disequilibrium (LD)?
non-random association of alleles at different loci on the same chromosome
what does no LD mean?
there is infinite recombination
what a complete/perfect LD mean?
no recombination
what does an incomplete LD mean?
recombination occurs in a portion of chromosome
what is R2?
how strong the correlation is between two variables
measures of LD
varies between 0 and 1
