Abstract
The presence of Native Americans, Europeans, and Africans has led to the development of a multi-ethnic, admixed population in Chile. This study aimed to contribute to the characterization of the uniparental genetic structure of three Chilean regions. Newborns from seven hospitals in Independencia, Providencia, Santiago, Curicó, Cauquenes, Valdívia, and Puerto Montt communes, belonging to the Chilean regions of Santiago, Maule, and Los Lagos, were studied. The presence of Native American mitochondrial DNA (mtDNA) haplogroups and two markers present in the non-recombinant region of the Y chromosome, DYS199 and DYS287, indicative of Native American and African ancestry, respectively, was determined. A high Native American matrilineal contribution and a low Native American and African patrilineal contributions were found in all three studied regions. As previously found in Chilean admixed populations, the Native American matrilineal contribution was lower in Santiago than in the other studied regions. However, there was an unexpectedly higher contribution of Native American ancestry in one of the studied communes in Santiago, probably due to the high rate of immigration from other regions of the country. The population genetic sub-structure we detected in Santiago using few uniparental markers requires further confirmation, owing to possible stratification for autosomal and X-chromosome markers.
Highlights
The European conquest brought significant changes to the population of America, resulting in cultural and genetic exchange with the Native American and African populations
Several studies have linked the matrilineage of Native American population to mitochondrial DNA haplogroups A through D
Antofagasta and Los Lagos regions showed a greater contribution of Native American ancestry by the matrilineage compared to that seen in the population of the Santiago metropolitan region
Summary
Camilla Dutra Vieira-Machado, Maluah Tostes, Gabrielle Alves, Julio Nazer, Liliana Martinez, Elisabeth Wettig, Oscar Pizarro Rivadeneira, Marcela Diaz Caamaño, Jessica Larenas Ascui, Pedro Pavez, Maria da Graça Dutra, Eduardo Enrique Castilla and Ieda Maria Orioli
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