International Journal of Legal Medicine

, Volume 121, Issue 3, pp 238–241

Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci

  • Patricia Mariana Domingues
  • Leonor Gusmão
  • Dayse Aparecida da Silva
  • António Amorim
  • Rinaldo W. Pereira
  • Elizeu F. de Carvalho
Short Communication

DOI: 10.1007/s00414-007-0154-x

Cite this article as:
Domingues, P.M., Gusmão, L., da Silva, D.A. et al. Int J Legal Med (2007) 121: 238. doi:10.1007/s00414-007-0154-x

Abstract

A male sample of 135 African descendents from the Rio de Janeiro population were typed for the 12 Y-chromosome short tandem repeat (STR) loci included in the PowerPlex Y System. A high haplotype diversity was observed (0.9971), with 91% of haplotypes being unique, demonstrating the usefulness and informative power of this Y-STR set in male lineage identification. Samples with shared haplotypes were additionally typed with the Yfiler kit, which includes five extra markers. The haplotype diversity when using the 17-Yfiler loci increased to (0.9998) with 97% unique haplotypes. The same set of Y-STRs was also typed in 135 father/son pairs and three single-step mutations were observed: one at DYS19 and two at DYS385. Genetic distance analysis showed highly significant differences in all pairwise comparisons between this sample of African descendents and the general population from Rio de Janeiro, as well as with Iberian and African samples from Portugal, Mozambique, Angola and Equatorial Guinea. Comparisons with samples from other regions in Brazil showed that heterogeneity does exist, indicating that a Y-haplotype database for the whole country should take into account the population sub-structure. Moreover, a strong European influence was detected, and thus, a Y-chromosome STR profile proves a rather poor indicator for the ethnic origin of an individual in Rio de Janeiro.

Keywords

Y-chromosome haplotypes STRs Brazil Africans Mutation 

Supplementary material

414_2007_154_MOESM1_ESM.doc (32 kb)
Figure S1Neighbour-joining tree based on Slatkin’s distances calculated using a) PowerPlex Y and b) minimal haplotype information from (a) this work, (b) [12], (c) [5], (d) [2], (e) [4] (f) [1], (g) [8] and (h) [13] (DOC 32 KB)
414_2007_154_MOESM2_ESM.doc (98 kb)
Table S1Y chromosome haplotype distribution in 135 African descendents from the Rio de Janeiro population (DOC 99 KB)
414_2007_154_MOESM3_ESM.doc (29 kb)
Table S2Y haplotypes obtained using YFiler kit for samples with a non-unique haplotype when typed for the 12 Y-STRs included in the PowerPlex Y system (DOC 29 KB)

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Patricia Mariana Domingues
    • 1
  • Leonor Gusmão
    • 2
  • Dayse Aparecida da Silva
    • 1
  • António Amorim
    • 2
    • 3
  • Rinaldo W. Pereira
    • 4
  • Elizeu F. de Carvalho
    • 1
    • 5
  1. 1.Laboratório de Diagnósticos por DNA, Departamento de Ensino de Ciências e Biologia, IBRAGUniversidade do Estado do Rio de JaneiroRio de JaneiroBrazil
  2. 2.Instituto de Patologia e Imunologia Molecular (IPATIMUP)Universidade do PortoPortoPortugal
  3. 3.Faculdade de CiênciasUniversidade do PortoPortoPortugal
  4. 4.Faculdade de CiênciasUniversidade Católica de BrasíliaBrasiliaBrazil
  5. 5.Laboratorio de Diagnósticos por DNARio de JaneiroBrazil

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