Accommodating chromosome inversions in linkage analysis

Am J Hum Genet. 2006 Aug;79(2):238-51. doi: 10.1086/505540. Epub 2006 Jun 6.

Abstract

This work develops a population-genetics model for polymorphic chromosome inversions. The model precisely describes how an inversion changes the nature of and approach to linkage equilibrium. The work also describes algorithms and software for allele-frequency estimation and linkage analysis in the presence of an inversion. The linkage algorithms implemented in the software package Mendel estimate recombination parameters and calculate the posterior probability that each pedigree member carries the inversion. Application of Mendel to eight Centre d'Etude du Polymorphisme Humain pedigrees in a region containing a common inversion on 8p23 illustrates its potential for providing more-precise estimates of the location of an unmapped marker or trait gene. Our expanded cytogenetic analysis of these families further identifies inversion carriers and increases the evidence of linkage.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Chromosome Inversion* / statistics & numerical data
  • Chromosome Mapping* / statistics & numerical data
  • Female
  • Gene Frequency
  • Genetic Linkage*
  • Genetic Markers
  • Genotype
  • Humans
  • Male
  • Models, Genetic

Substances

  • Genetic Markers