Accommodating Chromosome Inversions in Linkage Analysis

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 2006 Jul 11

PMID 16826515

Citations 3

Authors

Gary K Chen

Erin Slaten

Roel A Ophoff

Kenneth Lange

Affiliations

Soon will be listed here.

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.

Citing Articles

A sequential coalescent algorithm for chromosomal inversions.

Peischl S, Koch E, Guerrero R, Kirkpatrick M Heredity (Edinb). 2013; 111(3):200-9.

PMID: 23632894 PMC: 3746820. DOI: 10.1038/hdy.2013.38.

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

Bosch N, Morell M, Ponsa I, Mercader J, Armengol L, Estivill X PLoS One. 2009; 4(12):e8269.

PMID: 20011547 PMC: 2790694. DOI: 10.1371/journal.pone.0008269.

Merging microsatellite data: enhanced methodology and software to combine genotype data for linkage and association analysis.

Presson A, Sobel E, Pajukanta P, Plaisier C, Weeks D, Aberg K BMC Bioinformatics. 2008; 9:317.

PMID: 18644149 PMC: 2515855. DOI: 10.1186/1471-2105-9-317.

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