Allele frequency 2026-10-13
The allele frequency is the proportion of gene copies at a specified genetic locus carrying an allele. Two unrelated copies can have the same observed allele without being identical by descent; under independent sampling their matching probability is the sum of squared allele frequencies. Pedigree autozygosity instead traces copies to the same ancestral copy.
Autozygosity 2026-10-13
Autozygosity is homozygosity by descent: the maternal and paternal copies in one individual derive from the same ancestral copy. Unlike ordinary homozygosity, it concerns the ancestry of chromosome copies rather than only their observed states. In a pedigree with one ancestral disease-allele copy and fully penetrant recessive inheritance, every affected individual is autozygous for that copy.
For two individuals carrying labelled copies and , condensed identity coefficients give the probabilities of nine identity by descent patterns, identifying states that differ only by exchanging the two homologues within either individual. They retain within-individual autozygosity, which three ordinary outbred sharing coefficients omit. One convention is
Each block consists of copies identical by descent, and different blocks have distinct ancestral origins. For siblings whose parents are otherwise outbred first cousins, these coefficients are . This follows by conditioning on whether the parents share one ancestral copy and enumerating the four independent Mendelian segregation choices to their two children. The kinship coefficient is , here . Weir's discussion of identity states uses this convention.