The 17 Y chromosome STR loci DYS19, DYS385, DYS389I and II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS460, DYS461, GATA C4, GATA H4 and GATA A10 were analyzed in a male sample of 126 unrelated individuals from Rio de Janeiro. No shared haplotypes were observed, demonstrating the usefulness and informative power of these Y-STRs in male lineage identification in Rio de Janeiro. Pairwise haplotype analysis showed no significant differences in the comparison of Rio de Janeiro with Iberian samples from different regions of Portugal and Spain, as well as with other Caucasian samples from South America, namely Costa Rica, Buenos Aires (Argentina) and São Paulo (Brazil). The same set of Y-STRs was also typed in 119 father/son pairs and among 2,023 allele transfers, 8 mutations were observed with an overall mutation rate of 0.003955±0.001396 per locus/meiosis across the 17 loci. Except in one case, all mutations were single step. For DYS438 a four-step mutation was found which has never been reported before, where allele 10 mutated to allele 6.
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This work was partially supported by Fundação para a Ciência e a Tecnologia (POCTI, Programa Operacional Ciência, Tecnologia e Inovação); Fundação de Amparo a Pesquisa do Estado do Rio de Janeiro; and Programa DNA—Universidade do Estado do Rio de Janeiro e Tribunal de Justiça.
Author information Authors and AffiliationsLaboratorio de Diagnósticos por DNA Instituto de Biologia, Universidade do Estado do Rio de Janeiro, Brazil
Andréa Carla de Souza Góes, Elizeu Fagundes de Carvalho, Dayse Aparecida da Silva & Érica Helena Fonseca Gil
IPATIMUP, Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr. Roberto Frias s/n, 4200-465, Porto, Portugal
Iva Gomes, António Amorim & Leonor Gusmão
Departamento de Biologia, Universidade de Aveiro, Portugal
Iva Gomes
Faculdade de Ciências, Universidade do Porto, Portugal
António Amorim
Correspondence to Leonor Gusmão.
About this article Cite this articlede Souza Góes, A.C., de Carvalho, E.F., Gomes, I. et al. Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med 119, 70–76 (2005). https://doi.org/10.1007/s00414-004-0504-x
Received: 16 July 2004
Accepted: 12 October 2004
Published: 24 November 2004
Issue Date: March 2005
DOI: https://doi.org/10.1007/s00414-004-0504-x
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