title: Uniparental ancestry markers in Chilean populations.
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.
authors: Latin American Collaborative Study of Congenital Malformations (ECLAMC) and National Institute of Population Medical Genetics (INAGEMP), Departmento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors: Camilla Dutra
authors: CD
authors: Vieira-Machado
authors: Latin American Collaborative Study of Congenital Malformations (ECLAMC) and National Institute of Population Medical Genetics (INAGEMP), Departmento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors: Maluah
authors: M
authors: Tostes
authors: Latin American Collaborative Study of Congenital Malformations (ECLAMC) and National Institute of Population Medical Genetics (INAGEMP), Departmento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors: Gabrielle
authors: G
authors: Alves
authors: Neonatal Service, Department of Obstetrics and Gynecology, Hospital Clínico de La Universidad del Chile, Santiago, Chile.
authors: Julio
authors: J
authors: Nazer
authors: Hospital Regional de Valdivia, Valdívia, Chile.
authors: Liliana
authors: L
authors: Martinez
authors: Neonatology Service, Hospital Puerto Montt, Puerto Montt, Chile.
authors: Elisabeth
authors: E
authors: Wettig
authors: Hospital del Salvador, Santiago, Chile.
authors: Oscar
authors: O
authors: Pizarro Rivadeneira
authors: Hospital Clínico San Borja-Arriarán, Santiago, Chile.
authors: Marcela
authors: M
authors: Diaz Caamaño
authors: Hospital de Cauquenes, Cauquenes, Chile.
authors: Jessica
authors: J
authors: Larenas Ascui
authors: Hospital Curicó, Curicó, Chile.
authors: Pedro
authors: P
authors: Pavez
authors: Latin American Collaborative Study of Congenital Malformations (ECLAMC) and National Institute of Population Medical Genetics (INAGEMP), Laboratory of Congenital Malformations Epidemiology (LEMC), Instituto Oswaldo Cruz (IOC), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil.
authors: Maria da Graça
authors: MD
authors: Dutra
authors: Latin American Collaborative Study of Congenital Malformations (ECLAMC) and National Institute of Population Medical Genetics (INAGEMP), Laboratory of Congenital Malformations Epidemiology (LEMC), Instituto Oswaldo Cruz (IOC), Fundação Oswaldo Cruz (Fiocruz), Rio de Janeiro, RJ, Brazil.|Latin American Collaborative Study of Congenital Malformations (ECLAMC) Center for Medical Education and Clinical Research (CEMIC) Buenos Aires, Argentina.
authors: Eduardo Enrique
authors: EE
authors: Castilla
authors: Latin American Collaborative Study of Congenital Malformations (ECLAMC) and National Institute of Population Medical Genetics (INAGEMP), Departmento de Genética, Instituto de Biologia, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors: Ieda Maria
authors: IM
authors: Orioli