title: Male lineage strata of Brazilian population disclosed by the simultaneous analysis of STRs and SNPs.
abstract: Brazil has a large territory divided in five geographical regions harboring highly diverse populations that resulted from different degrees and modes of admixture between Native Americans, Europeans and Africans. In this study, a sample of 605 unrelated males was genotyped for 17 Y-STRs and 46 Y-SNPs aiming a deep characterization of the male gene pool of Rio de Janeiro and its comparison with other Brazilian populations. High values of Y-STR haplotype diversity (0.9999±0.0001) and Y-SNP haplogroup diversity (0.7589±0.0171) were observed. Population comparisons at both haplotype and haplogroup levels showed significant differences between Brazilian South Eastern and Northern populations that can be explained by differences in the proportion of African and Native American Y chromosomes. Statistical significant differences between admixed urban samples from the five regions of Brazil were not previously detected at haplotype level based on smaller size samples from South East, which emphasizes the importance of sample size to detected population stratification for an accurate interpretation of profile matches in kinship and forensic casework. Although not having an intra-population discrimination power as high as the Y-STRs, the Y-SNPs are more powerful to disclose differences in admixed populations. In this study, the combined analysis of these two types of markers proved to be a good strategy to predict population sub-structure, which should be taken into account when delineating forensic database strategies for Y chromosome haplotypes.
authors.affiliation: DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
authors.forename: Andréa M
authors.initials: AM
authors.lastname: Oliveira
authors.affiliation: DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
authors.forename: Patricia M
authors.initials: PM
authors.lastname: Domingues
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
authors.forename: Verónica
authors.initials: V
authors.lastname: Gomes
authors.affiliation: IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal; FCUP - Faculty of Sciences of the University of Porto, Porto, Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Amorim
authors.affiliation: DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
authors.forename: Juliana
authors.initials: J
authors.lastname: Jannuzzi
authors.affiliation: DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
authors.forename: Elizeu F
authors.initials: EF
authors.lastname: de Carvalho
authors.affiliation: DNA Diagnostic Laboratory (LDD), Institute of Biology, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal. Electronic address: lgusmao@ipatimup.pt.
authors.forename: Leonor
authors.initials: L
authors.lastname: Gusmão
mesh_terms: D001938:Brazil; D041322:Chromosomes, Human, Y; D016172:DNA Fingerprinting; D005828:Genetics, Population; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide
keywords: Brazil; Population stratification; Y-SNPs; Y-STRs