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The Maximum Lod Score method for affected relative-pair analysis, introduced by Risch, is a powerful method for detecting linkage between an autosomal marker locus and disease. In order to use the method to detect linkage to markers on the X-chromosome, some modification is necessary. Here we extend the method to be applicable to X-chromosomal data, and derive genetic restrictions on the haplotype-sharing probabilities analogous to the 'possible triangle' restrictions described by Holmans for the autosomal case. Size criteria are derived using asymptotic theory and simulation, and the power is calculated for a number of possible underlying models. The method is applied to data from 284 type 1 diabetic families and evidence is found for the presence of one or more diabetogenic loci on the X-chromosome.


Journal article


Ann Hum Genet

Publication Date





435 - 449


Alleles, Diabetes Mellitus, Type 1, Female, Genetic Linkage, Genetic Markers, Humans, Lod Score, Male, Models, Genetic, Pedigree, Sex Factors, X Chromosome