Genetic stuff Flashcards
novel property mutation example and definition
sickle cell trait
AA change make new property without changing function of protein
hardy weinberg equation
(p+q)^2=P^2+2pq+q^2
what is p^2 in hardy weinberg
frequency of homo dominant
what is q^2 in hardy weinberg
frequency of homo recessive
what is 2pq in hardy weinberg
frequency of heterozygote
what are p and q respectively in hardy weinberg
p is frequency of dominant allele and q is frequency of recessive allele
what is q generally equal to in population genetics?
the square root of prevalence of autosomal recessive disease
what do we assume p to be about equal to in population genetics?
p=1
what does the risk of being a carrier in the population usually equal?
square root of prevalence times two
because q is equal to square root of prevalence and p is equal to 1 and the overall risk is equal to 2pq
definition of founder effect in genetics
non random distribution of alleles in a population because small number of founding individuals
factor V lieden genetic inheritance pattern, risk and unique aspect
autosomal dominant
increases risk of thrombosis..DVT
incomplete penetrance
definition of haploinsufficiency
normal physiology requires more than 50% of gene product so with one mutated allele you see effects
dominant negative effect definition
abnormal protein interferes with the normal protein being made