This article will be available 6 months after publication:
Am J Hum Genet. 2006 Apr;78(4):680-90. Epub 2006 Feb 14.
Proportioning whole-genome single-nucleotide-polymorphism diversity for the
identification of geographic population structure and genetic ancestry.
Lao O, Duijn K, Kersbergen P, Knijff P, Kayser M.
Department of Forensic Molecular Biology, Erasmus University Medical Centre
Rotterdam, Rotterdam, The Netherlands. m.kayser@erasmusmc.nl.
The identification of geographic population structure and genetic ancestry on
the basis of a minimal set of genetic markers is desirable for a wide range
of applications in medical and forensic sciences. However, the absence of sharp
discontinuities in the neutral genetic diversity among human populations
implies that, in practice, a large number of neutral markers will be required to
identify the genetic ancestry of one individual. We showed that it is possible
to reduce the amount of markers required for detecting continental population
structure to only 10 single-nucleotide polymorphisms (SNPs), by applying a
newly developed ascertainment algorithm to Affymetrix GeneChip Mapping 10K SNP
array data that we obtained from samples of globally dispersed human individuals
(the Y Chromosome Consortium panel). Furthermore, this set of SNPs was able
to recover the genetic ancestry of individuals from all four continents
represented in the original data set when applied to an independent, much larger,
worldwide population data set (Centre d'Etude du Polymorphisme Humain-Human
Genome Diversity Project Cell Line Panel). Finally, we provide evidence that the
unusual patterns of genetic variation we observed at the respective genomic
regions surrounding the five most informative SNPs is in agreement with local
positive selection being the explanation for the striking SNP allele-frequency
differences we found between continental groups of human populations.
PMID: 16532397 [PubMed - in process]