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Estimating African American admixture proportions by use of population-specific alleles.
Authors:E J Parra  A Marcini  J Akey  J Martinson  M A Batzer  R Cooper  T Forrester  D B Allison  R Deka  R E Ferrell  and M D Shriver
Affiliation:1Department of Human Genetics, Allegheny University of the Health Sciences, University of Pittsburgh, Pittsburgh;2Department of Human Genetics, University of Pittsburgh, Pittsburgh;3Department of Pathology, Stanley S. Scott Cancer Center, Louisiana State University Medical Center, New Orleans;4Department of Preventive Medicine and Epidemiology, Loyola University Stritch School of Medicine, Maywood, Illinois;5Tropical Metabolism Research Unit, University of the West Indies, Mona, Jamaica;6Obesity Research Center, St. Luke's–Roosevelt Hospital, Columbia University College of Physicians and Surgeons, New York;7Department of Environmental Health, University of Cincinnati, Cincinnati
Abstract:We analyzed the European genetic contribution to 10 populations of African descent in the United States (Maywood, Illinois; Detroit; New York; Philadelphia; Pittsburgh; Baltimore; Charleston, South Carolina; New Orleans; and Houston) and in Jamaica, using nine autosomal DNA markers. These markers either are population-specific or show frequency differences >45% between the parental populations and are thus especially informative for admixture. European genetic ancestry ranged from 6.8% (Jamaica) to 22.5% (New Orleans). The unique utility of these markers is reflected in the low variance associated with these admixture estimates (SEM 1.3%-2.7%). We also estimated the male and female European contribution to African Americans, on the basis of informative mtDNA (haplogroups H and L) and Y Alu polymorphic markers. Results indicate a sex-biased gene flow from Europeans, the male contribution being substantially greater than the female contribution. mtDNA haplogroups analysis shows no evidence of a significant maternal Amerindian contribution to any of the 10 populations. We detected significant nonrandom association between two markers located 22 cM apart (FY-null and AT3), most likely due to admixture linkage disequilibrium created in the interbreeding of the two parental populations. The strength of this association and the substantial genetic distance between FY and AT3 emphasize the importance of admixed populations as a useful resource for mapping traits with different prevalence in two parental populations.
Keywords:Author Keywords: African Americans  Admixture  Population-specific alleles  Linkage disequilibrium  Mapping  Jamaicans
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