Male lineages in Brazilian populations and performance of haplogroup prediction tools.

Autor: Jannuzzi J; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil. Electronic address: jannuzzi.juliana@gmail.com., Ribeiro J; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil., Alho C; Laboratory of Human and Molecular Genetics, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Brazil., de Oliveira Lázaro E Arão G; Laboratório de Biologia e DNA Forense, Superintendência de Polícia Técnico-Científica do Estado de Goiás, Goiás, Brazil., Cicarelli R; UNESP-Universidade Estadual Paulista, Faculdade de Ciências Farmacêuticas, Laboratório de Investigação de Paternidade-NAC, São Paulo, Brazil., Simões Dutra Corrêa H; Coordenadoria de Perícias em Biologia Molecular, POLITEC - Perícia Oficial e Identificação Técnica, Mato Grosso, Brazil., Ferreira S; Faculdade Pitágoras, São Luís, Brazil., Fridman C; Departamento de Medicina Legal, Ética Médica e Medicina Social e do Trabalho da Faculdade de Medicina da USP, Universidade de São Paulo (USP), São Paulo, Brazil., Gomes V; IPATIMUP-Institute of Pathology and Molecular Immunology from the University of Porto, Portugal; I3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal., Loiola S; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil., da Mota MF; Laboratório de Biologia e DNA Forense, Superintendência de Polícia Técnico-Científica do Estado de Goiás, Goiás, Brazil., Ribeiro-Dos-Santos Â; Postgraduate Program in Genetics and Molecular Biology, Laboratory of Human and Medical Genetics, Federal University of Pará, Belém, Brazil., de Souza CA; Secretaria de Defesa Social Pernambuco, Pernambuco, Brazil., de Sousa Azulay RS; Serviço de Endocrinologia e Metabologia do Hospital Universitário da Universidade Federal do Maranhão, Maranhão, Brazil., Carvalho EF; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil., Gusmão L; DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
Jazyk: angličtina
Zdroj: Forensic science international. Genetics [Forensic Sci Int Genet] 2020 Jan; Vol. 44, pp. 102163. Date of Electronic Publication: 2019 Oct 15.
DOI: 10.1016/j.fsigen.2019.102163
Abstrakt: The use of Y-chromosomal genetic markers in forensic investigations demands the establishment of reliable and representative DNA databases of different reference populations. The genetic characterization of the Y chromosome variation in human populations requires the analyses of haplotype frequencies allied to haplogroup determination. The present study aimed to contribute to the Brazilian database by providing 1,382 Yfiler Plus individual profiles, from 11 Brazilian states. The Yfiler Plus markers showed high haplotype diversities in all Brazilian populations (>0.9970), allowing high intra-population discrimination in forensic investigations. Pairwise genetic distances showed a homogeneity between Brazilian populations (F ST ≤ 0.0043; non-differentiation p-values ≥ 0.0212), indicating that admixed populations from Brazil can be represented in a single Yfiler Plus haplotype database, for forensic purposes. The performance of Haplogroup Predictor and NevGen software in haplogroup prediction based on Yfiler Plus and Yfiler haplotypes was evaluated in a subset of 416 Brazilian samples that were also genotyped for 51 Y-SNPs. In 25% of the samples, no classification or errors were found for at least one of the prediction tools or marker sets. NevGen presented lower error rates (5.52% and 8.65% with Yfiler Plus and Yfiler, respectively) than Haplogroup Predictor (16.11% with Yfiler Plus and 13.70% with Yfiler). In conclusion, both haplogroup prediction tools can be useful to direct the SNP typing, but present large error rates to be used in forensic analysis, especially in predicting African haplogroups in admixed South American populations.
(Copyright © 2019 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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