Genetics, Vol. 164, 1567-1587, August 2003, Copyright © 2003

Inference of Population Structure Using Multilocus Genotype Data: Linked Loci and Correlated Allele Frequencies

Daniel Falusha, Matthew Stephensb, and Jonathan K. Pritchardc
a Department of Molecular Biology, Max-Planck Institut für Infektionsbiologie, 10117 Berlin, Germany,
b Department of Statistics, University of Washington, Seattle, Washington 98195
c Department of Human Genetics, University of Chicago, Chicago, Illinois 60637

Corresponding author: Daniel Falush, Schumann Strasse 21/22, 10117 Berlin, Germany., falush{at}mpiib-berlin.mpg.de (E-mail)

Communicating editor: M. K. UYENOYAMA

We describe extensions to the method of Pritchard et al. for inferring population structure from multilocus genotype data. Most importantly, we develop methods that allow for linkage between loci. The new model accounts for the correlations between linked loci that arise in admixed populations ("admixture linkage disequilibium"). This modification has several advantages, allowing (1) detection of admixture events farther back into the past, (2) inference of the population of origin of chromosomal regions, and (3) more accurate estimates of statistical uncertainty when linked loci are used. It is also of potential use for admixture mapping. In addition, we describe a new prior model for the allele frequencies within each population, which allows identification of subtle population subdivisions that were not detectable using the existing method. We present results applying the new methods to study admixture in African-Americans, recombination in Helicobacter pylori, and drift in populations of Drosophila melanogaster. The methods are implemented in a program, structure, version 2.0, which is available at http://pritch.bsd.uchicago.edu.





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