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Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil)

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Abstract

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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References

  • Alves C, Gusmão L, Barbosa J, Amorim A (2003) Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data. Forensic Sci Int 134:126–133

    Article  CAS  PubMed  Google Scholar 

  • Beleza S, Alves C, González-Neira A, Lareu M, Amorim A, Carracedo A, Gusmão L (2003) Extending STR markers in Y chromosome haplotypes. Int J Legal Med 117:27–33

    CAS  PubMed  Google Scholar 

  • Betz A, Babler G, Dietl G, Steil X, Weyermann G, Pflug W (2001) DYS STR analysis with epithelial cells in a rape case. Forensic Sci Int 118:126–130

    Article  CAS  PubMed  Google Scholar 

  • Bortolini MC, Salzano FM, Thomas MG et al. (2003) Y-chromosome evidence for differing ancient demographic histories in the Americas. Am J Hum Genet 73:524–539

    Article  CAS  PubMed  Google Scholar 

  • Callegari-Jacques SM, Grattapaglia D, Salzano FM, Salamoni SP, Crossetti SG, Ferreira ME, Hutz MH (2003) Historical genetics: spatiotemporal analysis of the formation of the Brazilian population. Am J Hum Biol 15:824–834

    Article  PubMed  Google Scholar 

  • Carvalho-Silva DR, Santos FR, Rocha J, Pena SDJ (2001) The phylogeography of Brazilian Y-chromosome lineages. Am J Hum Genet 68:281–286

    Article  CAS  PubMed  Google Scholar 

  • Costa AN Da, Silva R, Moura-Neto RS (2002) Y-chromosome variation in a Rio de Janeiro, Brazil, population sample. Forensic Sci Int 126:254–257

    Article  PubMed  Google Scholar 

  • Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat 23:117–124

    Article  CAS  PubMed  Google Scholar 

  • Gusmão L, Alves C (2005) Y chromosome STR typing. In: Carracedo A (ed) Forensic DNA typing protocols, v.297. Humana Press, Totowa, New Jersey, pp 67–81 (in press)

  • Gusmão L, González-Neira A, Lareu MV, Costa S, Amorim A, Carracedo A (2002a) Chimpanzee homologies of human Y specific STRs: a comparative study and a proposal for nomenclature. Forensic Sci Int 126:129–136

    Article  PubMed  Google Scholar 

  • Gusmão L, Alves C, Beleza S, Amorim A (2002b) Forensic evaluation and population data on the new Y-STRs DYS434, DYS437, DYS438, DYS439 and GATA A10. Int J Legal Med 116:139–147

    Article  PubMed  Google Scholar 

  • Gusmão L, Sánchez-Diz P, Alves C et al. (2003) Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data. Forensic Sci Int 135:150–157

    Article  PubMed  Google Scholar 

  • Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Legal Med 110:118–124

    Article  CAS  PubMed  Google Scholar 

  • Kayser M, Roewer L, Hedman M et al. (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588

    Article  CAS  PubMed  Google Scholar 

  • Kayser M, Krawczak M, Excoffier L et al. (2001) An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet 68:990–1018

    Article  CAS  PubMed  Google Scholar 

  • Kurihara R, Yamamoto T, Uchihi R et al. (2004) Mutations in 14 Y-STR loci among Japanese father-son haplotypes. Int J Legal Med 118:125–131

    Article  PubMed  Google Scholar 

  • Martín P, García-Hirschfeld J, García O et al. (2004) A Spanish population study of 17 Y-chromosome STR loci. Forensic Sci Int 139:231–235

    Article  PubMed  Google Scholar 

  • Miller SA, Dykes DD, Polesky HF (1988) A single salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215

    CAS  PubMed  Google Scholar 

  • Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York

  • Prinz M, Ishii A, Coleman A, Baum HJ, Shaler RC (2001) Validation and casework application of a Y chromosome specific STR multiplex. Forensic Sci Int 120:177–188

    Article  CAS  PubMed  Google Scholar 

  • Roewer L, Krawczak M, Willuweit S et al. (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci Int 118:106–113

    Article  CAS  PubMed  Google Scholar 

  • Sánchez-Diz P, Gusmão L, Beleza S et al. (2003) Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439). Forensic Sci Int 135:158–162

    Article  PubMed  Google Scholar 

  • Schneider S, Roessli D, Excoffier L (2000) Arlequin: a software for population genetics data analysis. Ver 2.000. Genetics and Biometry Lab, Department of Anthropology, University of Geneva

  • Thomas MG, Parfitt T, Weiss DA et al. (2000) Y chromosomes traveling south: the cohen modal haplotype and the origins of the Lemba—the “Black Jews of Southern Africa”. Am J Hum Genet 66:674–686

    Article  CAS  PubMed  Google Scholar 

  • Vallinoto AC, Cayres-Vallinoto IM, Ribeiro dos Santos AKA, Zago MA, Santos SE, Guerreiro JF (1999) Heterogeneity of Y chromosome markers among Brazilian Amerindians. Am J Hum Biol 11:481–487

    Article  PubMed  Google Scholar 

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Acknowledgements

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.

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Correspondence to Leonor Gusmão.

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de 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

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  • DOI: https://doi.org/10.1007/s00414-004-0504-x

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