An extension of the Maximum Lod Score method to X-linked loci

Ann Hum Genet. 1995 Oct;59(4):435-49. doi: 10.1111/j.1469-1809.1995.tb00761.x.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Genetic Markers