title: Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations.
abstract: For the correct evaluation of the weight of genetic evidence in a forensic context, databases must reflect the structure of the population, with all possible groups being represented. Countries with a recent history of admixture between strongly differentiated populations are usually highly heterogeneous and sub-structured. Bolivia is one of these countries, with a high diversity of ethnic groups and different levels of admixture (among Native Americans, Europeans and Africans) across the territory. For a better characterization of the male lineages in Bolivia, 17 Y-STR and 42 Y-SNP loci were genotyped in samples from La Paz and Chuquisaca. Only European and Native American Y-haplogroups were detected, and no sub-Saharan African chromosomes were found. Significant differences were observed between the two samples, with a higher frequency of European lineages in Chuquisaca than in La Paz. A sample belonging to haplogroup Q1a3a1a1-M19 was detected in La Paz, in a haplotype background different from those previously found in Argentina. This result supports an old M19 North-south dispersion in South America, possibly via two routes. When comparing the ancestry of each individual assessed through his Y chromosome with the one estimated using autosomal AIMs, (a) increased European ancestry in individuals with European Y chromosomes and (b) higher Native American ancestry in the carriers of Native American Y-haplogroups were observed, revealing an association between autosomal and Y-chromosomal markers. The results of this study demonstrate that a sub-structure does exist in Bolivia at both inter- and intrapopulation levels, a fact which must be taken into account in the evaluation of forensic genetic evidence.
authors.affiliation: DNA Forensic Laboratory, Argentinean Forensic Anthropology Team (EAAF), Córdoba, Argentina.
authors.forename: Carlos
authors.initials: C
authors.lastname: Vullo
authors.forename: Verónica
authors.initials: V
authors.lastname: Gomes
authors.forename: Carola
authors.initials: C
authors.lastname: Romanini
authors.forename: Andréa M
authors.initials: AM
authors.lastname: Oliveira
authors.forename: Omar
authors.initials: O
authors.lastname: Rocabado
authors.forename: Juliana
authors.initials: J
authors.lastname: Aquino
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
mesh_terms: D001838:Bolivia; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D004272:DNA, Mitochondrial / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D044469:Racial Groups / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial