O. Validation Study for OmniPop

Toward a Genetic Profile of Melungeons in Eastern Tennessee

Paper in Submission, June 2007

Donald N. Yates
DNA Testing Systems
7459 E. Pleasant Run
Scottsdale, AZ 85258

Elizabeth C. Hirschman
Department of Marketing
School of Business
Rutgers University
New Brunswick, NJ 08903

ABSTRACT: The only previous attempt to validate the probabilistic prediction of ethnicity by OmniPop found a margin of error as large as 20% in identifying whether random samples were to be classified as "White" or "African American."

The authors took a more comprehensive approach based on case studies within a single mixed population. Using a convenience sample of 22 self-identifying Melungeons (a tri-racial isolate population in the southern Appalachian Mountains), the authors analyzed and compared their OmniPop and ENFSI results. Several test subjects were part of an extended family, so it was possible to judge the consistency of results both latitudinally and longitudinally.

Among the findings: "One is left with a pattern of predominantly northeastern Scottish ancestry supplemented with Mediterranean elements and only minor contributions from adjacent northwestern European populations (England/Wales, Netherlands, Norway, Belgium, Denmark)."

In conclusion: "Although based on a limited sample, our results suggest that the Melungeons were not primarily drawn from ancestries in northwestern Europe, but rather represent an amalgam of Mediterranean, Middle Eastern, North African, Sub-Saharan African and Native American ethnicities. It is possible that some founders carried South Asian and/or Gypsy/Roma ancestry, as well."

Discussed also are some of the little-understood aspects of population structure convergence -- for instance, that of Finns and individuals of predominantly northwestern European ancestry admixed with Native American.