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 Seldin

Research output: Contribution to journalArticle

118 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)382-392
Number of pages11
JournalHuman Genetics
Volume118
Issue number3-4
DOIs
StatePublished - Dec 2005

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Forensic Medicine
Clinical Medicine
Genetic Markers
African Americans
Epidemiology
Hispanic Americans
Gene Frequency
Population
Cluster Analysis
DNA
Pharmacogenomic Testing

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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. / Yang, Nan; Li, Hongzhe; Criswell, Lindsey A.; Gregersen, Peter K.; Alarcon-Riquelme, Marta E.; Kittles, Rick; Shigeta, Russell; Silva, Gabriel; Patel, Pragna I.; Belmont, John W.; Seldin, Michael F.

In: Human Genetics, Vol. 118, No. 3-4, 12.2005, p. 382-392.

Research output: Contribution to journalArticle

Yang, Nan ; Li, Hongzhe ; Criswell, Lindsey A. ; Gregersen, Peter K. ; Alarcon-Riquelme, Marta E. ; Kittles, Rick ; Shigeta, Russell ; Silva, Gabriel ; Patel, Pragna I. ; Belmont, John W. ; Seldin, Michael F. / 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. In: Human Genetics. 2005 ; Vol. 118, No. 3-4. pp. 382-392.
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