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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1006/expr.1995.1070

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1432-1203

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Genomewide analysis of the structure of the South

Authors: Erika de Wit Wayne Delport Chimusa E Rugamika Ayton Meintjes Marlo Möller Paul D van Helden Cathal Seoighe Eileen G Hoal
Publish Date: 2010/05/20
Volume: 128, Issue: 2, Pages: 145-153
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Abstract

Admixed populations present unique opportunities to discover the genetic factors underlying many multifactorial diseases The geographical position and complex history of South Africa has led to the establishment of the unique admixed population known as the South African Coloured Not much is known about the genetic makeup of this population and the historical record is patchy We genotyped 959 individuals from the Western Cape area selfidentified as belonging to this population using the Affymetrix 500k genotyping platform This resulted in nearly 75000 autosomal SNPs that could be compared with populations represented in the International HapMap Project and the Human Genome Diversity Project Analysis by means of both the admixture and linkage models in STRUCTURE revealed that the major ancestral components of this population are predominantly Khoesan 32–43 Bantuspeaking Africans 20–36 European 21–28 and a smaller Asian contribution 9–11 depending on the model used This is consistent with historical data While of great historical and genealogical interest this information is also essential for future admixture mapping of disease genes in this populationThe collective term for people of mixed ancestry in southern Africa is “Coloured” and is recognized and used officially in South Africa Whilst we acknowledge that in some cultures this term may have acquired a derogatory connotation this is certainly not intended hereWe thank all the participants on this study Alan Morris for helpful discussions and The Meraka Institute http//wwwmerakaorgza/ for computational resources We are grateful to Karen Small of Strategic Development Information and GIS City of Cape Town for provision of demographic data We thank GlaxoSmithKline for the donation of the GeneChip Human Mapping 500K Array Sets from Affymetrix The experiments performed in this study comply with the current laws of South Africa

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