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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Male lineages in Brazilian populations and performance of haplogroup prediction tools

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Author(s):
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Jannuzzi, Juliana [1] ; Ribeiro, Julyana [1] ; Alho, Clarice [2] ; Lazaro e Arao, Grasielly de Oliveira [3] ; Cicarelli, Regina [4] ; Dutra Correa, Heitor Simoes [5] ; Ferreira, Suelen [6] ; Fridman, Cintia [7] ; Gomes, Veronica [8, 9] ; Loiola, Silvia [1] ; da Mota, Mariana Flavia [3] ; Ribeiro-dos-Santos, Andrea [10] ; de Souza, Carlos Antonio [11] ; de Sousa Azulay, Rossana Santiago [12] ; Carvalho, Elizeu F. [1] ; Gusmao, Leonor [1]
Total Authors: 16
Affiliation:
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[1] State Univ Rio De Janeiro UERJ, DNA Diagnost Lab LDD, Rio De Janeiro - Brazil
[2] Pontificia Univ Catolica Rio Grande do Sul, Lab Human & Mol Genet, Porto Alegre, RS - Brazil
[3] Lab Biol & DNA Forense, Superintendencia Policia Tecn Cient Estado Goias, Goiania, Goias - Brazil
[4] Univ Estadual Paulista, Fac Ciencias Farmaceut, Lab Invest Paternidade NAC, UNESP, Sao Paulo, SP - Brazil
[5] POLITEC Pericia Oficial & Identificacao Tecn, Pericias Biol Mol, Cuiaba, Mato Grosso - Brazil
[6] Fac Pitagoras, Sao Luis, Maranhao - Brazil
[7] Univ Sao Paulo, Fac Med, Dept Med Legal Etica Med & Med Social & Trabalho, Sao Paulo, SP - Brazil
[8] Univ Porto, i3S, Porto - Portugal
[9] Univ Porto, IPATIMUP Inst Pathol & Mol Immunol, Porto - Portugal
[10] Fed Univ Para, Lab Human & Med Genet, Postgrad Program Genet & Mol Biol, Belem, Para - Brazil
[11] Secretaria Def Social Pernambuco, Recife, PE - Brazil
[12] Univ Fed Maranhao, Serv Endocrinol & Metabol, Hosp Univ, Sao Luis, Maranhao - Brazil
Total Affiliations: 12
Document type: Journal article
Source: FORENSIC SCIENCE INTERNATIONAL-GENETICS; v. 44, JAN 2020.
Web of Science Citations: 0
Abstract

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 infra-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. (AU)

FAPESP's process: 16/10138-8 - Study of sexual chromosomes markers in the São Paulo state population: 32 X-InDels and 23 Y- STRs analysis
Grantee:Regina Maria Barretto Cicarelli
Support Opportunities: Regular Research Grants