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A simple method to detect linkage for rare recessive diseases: An application to juvenile diabetes
Author(s) -
Suarez Brian K.,
Hodoe Susan E.
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01751.x
Subject(s) - recombination fraction , identity by descent , multiplex , genetics , linkage (software) , genetic linkage , locus (genetics) , human leukocyte antigen , biology , pedigree chart , lod score , computational biology , gene mapping , gene , genotype , haplotype , antigen , chromosome
A simple procedure designed specifically to detect linkage for rare recessive diseases is described. The method uses information on identity by descent scores for a pair of sibs at a marker locus conditioned on the number of affected sibs in the pair. A procedure for estimating the recombination fraction is described, and a table facilitating the likelihood ratio test of linkage is provided. The method, when applied to a collection of multiplex families segregating for juvenile diabetes mellitus, suggests the possibility that this disease is linked to the HLA complex. The method is found to compare favorably to the maximum likelihood approach, for which the computer program LIPED gives a maximum lod score of 2.48 at a male and female recombination fraction of 8 = 0.20.