title: Analysis of Y-chromosome STRs in Chile confirms an extensive introgression of European male lineages in urban populations.
abstract: We analyzed the Y chromosome haplotypes (Yfiler) of 978 non-related Chilean males grouped in five sampling regions (Iquique, Santiago de Chile, Concepción, Temuco and Punta Arenas) covering main geo-political regions. Overall, 803 different haplotypes and 688 singletons were observed. Molecular diversity was moderately lower than in other neighboring countries (e.g. Argentina); and AMOVA analysis on Y-STR haplotypes showed that among variation within Chile accounted for only 0.25% of the total variation. Punta Arenas, in the southern cone, showed the lowest haplotype diversity, and discrimination capacity, and also the highest matching probability of the five Chilean samples, probably reflecting its more marked geographic isolation compared to the other regions. Multidimensional scaling (MDS) analysis based on RST genetic distances suggested a close proximity of Chilean Y-chromosome profiles to European ones. Consistently, haplogroups inferred from Y-STR profiles revealed that the Native American component constituted only 8% of all the haplotypes, and this component ranged from 5% in the Centre of the country to 9-10% in the South and 13% in the North, which is in good agreement with the distribution of Native American communities in these regions. AMOVA computed on inferred haplogroups confirmed the very low among variation observed in Chilean populations. The present project provides the first Chilean dataset to the international Y-chromosome STR Haplotype Reference Database (YHRD) and it is also the first reference database for Y-chromosome forensic casework of the country.
authors.affiliation: Pricai-Fundación Favaloro, Buenos Aires, Argentina; Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Infectious Diseases and Vaccines Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Galicia, Spain.
authors.forename: Ulises
authors.initials: U
authors.lastname: Toscanini
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Sezione di Medicina Legale-Istituto di Sanità Pubblica, Università Cattolica del Sacro Cuore, Roma, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Brisighelli
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Servicio Medico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Fabián
authors.initials: F
authors.lastname: Moreno
authors.affiliation: Servicio Medico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Jaime A
authors.initials: JA
authors.lastname: Pantoja-Astudillo
authors.affiliation: Servicio Medico Legal, Ministerio de Justicia, Santiago, Chile; Infectious Diseases and Vaccines Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Galicia, Spain.
authors.forename: Eugenia Aguirre
authors.initials: EA
authors.lastname: Morales
authors.affiliation: Servicio Medico Legal, Ministerio de Justicia, Santiago, Chile.
authors.forename: Patricio
authors.initials: P
authors.lastname: Bustos
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Infectious Diseases and Vaccines Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Galicia, Spain.
authors.forename: Jacobo
authors.initials: J
authors.lastname: Pardo-Seco
authors.affiliation: Unidade de Xenética, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Grupo de Medicina Xenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain; Infectious Diseases and Vaccines Unit, Department of Pediatrics, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Galicia, Spain. Electronic address: antonio.salas@usc.es.
authors.forename: Antonio
authors.initials: A
authors.lastname: Salas
mesh_terms: D002677:Chile; D041322:Chromosomes, Human, Y; D030541:Databases, Genetic; D005060:Europe / Q000208:ethnology; D053803:Forensic Genetics / Q000379:methods; D005828:Genetics, Population / Q000379:methods; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D044469:Racial Groups; D014505:Urban Population; D044465:White People / Q000235:genetics*
keywords: Chile; Forensic genetics; Y-STR; Y-filer; YHRD