Human Genetics Flashcards
steps to analyze a pedigree
look for dominant or recessive, then look at x linkage
autosomal recessive
not on the x chromosome, recessive trait
autosomal dominant
not on the x chromosome, dominant trait
x linked
associated with the x chromosome
carrier
heterozygous with a recessive linked disease
sickle cell inheritance
autosomal recessive
tay-sachs inheritance
autosomal recessive
cystic fibrosis inheritance
autosomal recessive
hemophilia inheritance
x linked recessive
huntington’s inheritance
autosomal dominant
hereditary risks
parent may be a carrier for genes which influence certain disorders
benign mutation
variation in a gene which does not cause harm
variation of unknown significance
variation in a gene which is not recognized and may cause harm
pathogenic mutation
mutation which causes harm
