Evaluating self-declared ancestry of U.S. Americans with autosomal, Y-chromosomal and mitochondrial DNA

Oscar Lao, Peter M. Vallone, Michael D. Coble, Toni M. Diegoli, Mannis Van Oven, Kristiaan J. Van Der Gaag, Jeroen Pijpe, Peter De Knijff, Manfred Kayser

Research output: Contribution to journalArticlepeer-review

76 Scopus citations


The current U.S. population represents an amalgam of individuals originating mainly from four continental regions (Africa, Europe, Asia and America). To study the genetic ancestry and compare with self-declared ancestry we have analyzed paternally, maternally and bi-parentally inherited DNA markers sensitive for indicating continental genetic ancestry in all four major U.S. American groups. We found that self-declared U.S. Hispanics and U.S. African Americans tend to show variable degrees of continental genetic admixture among the three genetic systems, with evidence for a marked sex-biased admixture history. Moreover, for these two groups we observed significant regional variation across the country in genetic admixture. In contrast, self-declared U.S. European and U.S. Asian Americans were genetically more homogeneous at the continental ancestry level. Two autosomal ancestry-sensitive markers located in skin pigmentation candidate genes showed significant differences in self-declared U.S. African Americans or U.S. European Americans, relative to their assumed parental populations from Africa or Europe. This provides genetic support for the importance of skin color in the complex process of ancestry identification.

Original languageEnglish
Pages (from-to)E1875-E1893
JournalHuman Mutation
Issue number12
StatePublished - Dec 2010


  • AIM
  • ASM
  • Genetic ancestry
  • MtDNA
  • NRY
  • Self-declared ancestry
  • U.S. Americans
  • Y-chromosome


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