Population Genetics Flashcards
What is Pop Gen
study of allele and genotype frequency
Population
every member with selected characteristic
Sample
subset which represents whole pop,
unrelated
chosen at random
locus
specific pos of specific c/s
allele
alt form of gene or marker at a specific locus
genotupe
genetic makeup of an induv @ specific gene
phenotype
observable characteristics due to genetic and environment
Hardy weinberg
if a pop is at genetic equilibrium, allele frequency will not change,
p + q = 1
p2 +2pq + q2= 1
polymorphism
Blood groups
M and N antigens are at one locus, S and s are at another
Allele frequency
c/s that contain a specific allele
allele at a locus can be determined by sequencing
Autosomal recessive
freq of disease causing allele 1 is derived from incidence of the disease in the pop.
allows for estimation of allelic and carrier freqe
incidence is found from epidemiology
HW Equilibria Rules
Pop is indefinitely large random mating no migration no natural selection no mutation
NO TRUE OF HUMAN POP BUT GIVES ESTIMATE
X Linked conditions
For females carrier incidence is 2pq
for males, freq is q= disease freq