Human Genetics

, Volume 118, Issue 3–4, pp 382–392 | Cite as

Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

  • Nan Yang
  • Hongzhe Li
  • Lindsey A. Criswell
  • Peter K. Gregersen
  • Marta E. Alarcon-Riquelme
  • Rick Kittles
  • Russell Shigeta
  • Gabriel Silva
  • Pragna I. Patel
  • John W. Belmont
  • Michael F. SeldinEmail author
Original Investigation


We and others have identified several hundred ancestry informative markers (AIMs) with large allele frequency differences between different major ancestral groups. For this study, a panel of 199 widely distributed AIMs was used to examine a diverse set of 796 DNA samples including self-identified European Americans, West Africans, East Asians, Amerindians, African Americans, Mexicans, Mexican Americans, Puerto Ricans and South Asians. Analysis using a Bayesian clustering algorithm (STRUCTURE) showed grouping of individuals with similar ethnic identity without any identifier other than the AIMs genotyping and showed admixture proportions that clearly distinguished different individuals of mixed ancestry. Additional analyses showed that, for the majority of samples, the predicted ethnic identity corresponded with the self-identified ethnicity at high probability (P > 0.99). Overall, the study demonstrates that AIMs can provide a useful adjunct to forensic medicine, pharmacogenomics and disease studies in which major ancestry or ethnic affiliation might be linked to specific outcomes.


Familial Mediterranean Fever Admixture Model Admix Population Allele Frequency Difference Ethnic Grouping 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Support for this research was provided by National Institute of Health grants U01-DK57249, AR44804, AR50267 and AR20684.

Supplementary material

439_2005_12_MOESM1_ESM.pdf (251 kb)
Supplementary material


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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Nan Yang
    • 1
  • Hongzhe Li
    • 1
  • Lindsey A. Criswell
    • 2
  • Peter K. Gregersen
    • 3
  • Marta E. Alarcon-Riquelme
    • 4
  • Rick Kittles
    • 5
  • Russell Shigeta
    • 1
  • Gabriel Silva
    • 6
  • Pragna I. Patel
    • 7
  • John W. Belmont
    • 8
  • Michael F. Seldin
    • 1
    Email author
  1. 1.Rowe Program in Human Genetics, Departments of Biological chemistry and MedicineUniversity of CaliforniaDavisUSA
  2. 2.Rosalind Russell Medical Research Center for Arthritis, University of CaliforniaSan FranciscoUSA
  3. 3.University of UppsalaUppsalaSweden
  4. 4.The Robert S. Boas Center for Genomics and Human GeneticsNorth Shore Lij for Medical ResearchManhassetUSA
  5. 5.Comprehensive Cancer CenterOhio State UniversityColombusUSA
  6. 6.Obras Sociales Del Hermano PedroAntiguaGuatemala
  7. 7.Institute for Genetic Medicine, Universtiy of Southern CaliforniaLos AngelesUSA
  8. 8.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA

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