Premium
A test statistic for the affected‐sib‐set method
Author(s) -
LANGE K.
Publication year - 1986
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1986.tb01049.x
Subject(s) - identity by descent , statistic , mathematics , locus (genetics) , test statistic , identity (music) , population , statistics , combinatorics , genetics , allele , statistical hypothesis testing , biology , demography , physics , sociology , acoustics , haplotype , gene
Summary This paper discusses generalizations of the affected‐sib‐pair method. First, the requirement that sib identity‐by‐descent relations be known unambiguously is relaxed by substituting sib identity‐by‐state relations. This permits affected sibs to be used even when their parents are unavailable for typing. In the limit of an infinite number of marker alleles each of infinitesimal population frequency, the identity‐by‐state relations coincide with the usual identity‐by‐descent relations. Second, a weighted pairs test statistic is proposed that covers affected sib sets of size greater than two. These generalizations make the affected‐sib‐pair method a more powerful technique for detecting departures from independent segregation of disease and marker phenotypes. A sample calculation suggests such a departure for tuberculoid leprosy and the HLAD locus.