genetics Flashcards
allelic heterogeneity
different alleles (variants) of the same gene can lead to the same phenotype; can order one panel
locus heterogeneity
there may be several different locations or locus’s for different genes; clinically relevant because may need to order several different genetic marker tests because there are different genes responsible
variable expressivity
the components or severity of a phenotype for a given condition may vary among individuals
faconis anemia is known to be caused by at least 15 genes what genetic concept does this illustrate?
locus heterogeneity
alleles
different versions of a gene
locus
location of gene
founder effect and genetic drift
this results in higher carrier frequencies in certain populations