Cited by 771Forensic and Genetic ResearchRace, Genetics, and SocietyGenetic diversity and population structure

Estimating African American Admixture Proportions by Use of Population-Specific Alleles

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Parra, Esteban J., Marcini, Amy, Akey, Joshua, Martinson, Jeremy, Batzer, Mark A., Cooper, Richard, Forrester, Terrence, Allison, David B. +3 more·1998·The American Journal of Human Genetics

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.

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  • African Americans in the US typically carry segments of DNA shaped by contributions from peoples of Europe, Africa, and the Americas, with variation in African and European admixture proportions across individuals and differences in groups across parts of the country.

    “Previous studies have shown that African Americans in the US typically carry segments of DNA shaped by contributions from peoples of Europe, Africa, and the Americas, with variation in African and European admixture proportions across individuals and differences in groups across parts of the country.2–4”

    From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [3]

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  • More recent studies using high-density genotype data provide reliable individual ancestry estimates, illustrate large variability in African and European ancestry proportions at an individual level, and detect low proportions of Native American ancestry.

    “More recent studies that utilized high-density genotype data provide reliable individual ancestry estimates, illustrate the large variability in African and European ancestry proportions at an individual level, and are able to detect low proportions of Native American ancestry.3–11”

    From The genetic ancestry of African Americans, Latinos, and European Americans across the United States (2015) · cites this paper as [3]

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  • The paper's estimates of mean African ancestry in 23andMe African Americans are 73% or 75%, unlike previous estimates that typically ranged from 77% to 93%.

    “Unlike previous estimates of the mean proportion of African ancestry, which typically have ranged from 77% to 93% African ancestry,2–4,48–62 our estimates, depending on exclusions, are 73% or 75%.”

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  1. [1]1. Adams, J ∙ Ward, RH Admixture studies and detection of selection Science. 1973; 180:1137-1143 Crossref Scopus (63) PubMed Google Scholar
  2. [2]2. Allison, DB Transmission disequilibrium tests for quantitative traits Am J Hum Genet. 1997; 60:676-690 PubMed Google Scholar

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Authors
Parra, E. J., Marcini, A., Akey, J., Martinson, J., Batzer, M. A., Cooper, R., Forrester, T., Allison, D. B., Deka, R., Ferrell, R. E., & Shriver, M. D.
Affiliations
  • University of Pittsburgh (US)
  • Louisiana State University (US)
  • Loyola University Medical Center (US)
  • University of the West Indies System (JM)
  • St. Luke's-Roosevelt Hospital Center (US)
  • University of Cincinnati (US)
Corresponding author
Shriver, Mark D.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
1998-12
Volume
63
Issue
6
Pages
1839-1851
ISSN
0002-9297 (ISSN-L)
OpenAlex
W2097325658
Cited by
771
References
51
Citations by year
2026: 6 · 2025: 4 · 2024: 5 · 2023: 9 · 2022: 8 · 2021: 9 · 2020: 12 · 2019: 15 · 2018: 11 · 2017: 17 · 2016: 20 · 2015: 28 · 2014: 34 · 2013: 35 · 2012: 40
FWCI
7.64
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Civil War Book Review (submittedVersion)
Funders
  • National Science Foundation
  • U.S. Department of Justice
  • National Institutes of Health (5r01gm045861-08)
  • National Institute of General Medical Sciences (GM 45861)
  • National Institute of Justice
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Keywords
sex-biased gene flow, mtDNA haplogroups, Native American ancestry, Jamaica
MeSH terms
Africa, Alleles, Black or African American, DNA, Mitochondrial, Europe, Female, Gene Frequency, Gene Pool, Genetic Markers, Genetics, Population, Haplotypes, Humans, Jamaica, Male, Polymorphism, Genetic, Sex Ratio, United States, Y Chromosome, Linkage Disequilibrium, Alu Elements, Black People

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