International Journal of Legal Medicine

, Volume 121, Issue 3, pp 238–241 | Cite as

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


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.


Y-chromosome haplotypes STRs Brazil Africans Mutation 



This work was partially supported by Fundação para a Ciência e a Tecnologia (POCI, Programa Operacional Ciência e Inovação); Fundação de Amparo a Pesquisa do Estado do Rio de Janeiro and Programa DNA—Universidade do Estado do Rio de Janeiro and Tribunal de Justiça do Estado do Rio de Janeiro.

Supplementary material

414_2007_154_MOESM1_ESM.doc (32 kb)
Figure S1 Neighbour-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 S1 Y 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 S2 Y 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)


  1. 1.
    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 134:126–133PubMedCrossRefGoogle Scholar
  2. 2.
    Arroyo-Pardo E, Gusmão L, López-Parra AM, Baeza C, Mesa MS, Amorim A (2005) Genetic variability of 16 Y-chromosome STRs in a sample from Equatorial Guinea (Central Africa). Forensic Sci Int 149:109–113PubMedCrossRefGoogle Scholar
  3. 3.
    Ballard DJ, Phillips C, Thacker CR, Robson C, Revoir AP, Syndercombe Court D (2005) A study of mutation rates and the characterization of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70PubMedCrossRefGoogle Scholar
  4. 4.
    Beleza S (2005) Phylogenetic and demographic history of two human populations revealed by the analysis of two non-recombining segments of the genome: Y-chromosome and mitochondrial DNA. PhD thesis, University of Santiago de Compostela, SpainGoogle Scholar
  5. 5.
    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 Leg Med 117:27–33Google Scholar
  6. 6.
    Bianchi NO, Catanesi CI, Bailliet G et al (1998) Characterization of ancestral and derived Y-chromosome haplotypes of New World native populations. Am J Hum Genet 63:1862–1871PubMedCrossRefGoogle Scholar
  7. 7.
    Budowle B, Adamowicz M, Aranda XG et al (2005) Twelve short tandem repeat loci Y chromosome haplotypes: genetic analysis on populations residing in North America. Forensic Sci Int 150:1–15PubMedCrossRefGoogle Scholar
  8. 8.
    Cainé L, Corte-Real F, Vieira DN, Carvalho M, Serra A, Lopes V, Vide MC (2005) Allele frequencies and haplotypes of 8 Y-chromosomal STRs in the Santa Catarina population of southern Brazil. Forensic Sci Int 148:75–79PubMedCrossRefGoogle Scholar
  9. 9.
    Dettlaff-Kakol A, Pawlowski R (2002) First Polish DNA “manhunt”—an application of Y-chromosome STRs. Int J Leg Med 116:289–291Google Scholar
  10. 10.
    Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Human Mutat 23:117–124CrossRefGoogle Scholar
  11. 11.
    Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50Google Scholar
  12. 12.
    Góes ACS, Carvalho EF, Gomes I, da Silva DA, Gil EHF, Amorim A, Gusmão L (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Legal Med 119:70–76CrossRefGoogle Scholar
  13. 13.
    Grattapaglia D, Kalupniek S, Guimarães CS, Ribeiro MA, Diener PS, Soares CN (2005) Y-chromosome STR haplotype diversity in Brazilian populations. Forensic Sci Int 149:99–107PubMedCrossRefGoogle Scholar
  14. 14.
    Gusmão L, Sánchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Human Mutat 26:520–528CrossRefGoogle Scholar
  15. 15.
    Gusmão L, Butler JM, Carracedo A et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Int J Legal Med 120:191–200PubMedCrossRefGoogle Scholar
  16. 16.
    Heyer E, Puymirat J, Dieltjes P, Bakker E, de Knijff P (1997) Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 6:799–803PubMedCrossRefGoogle Scholar
  17. 17.
    Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Leg Med 110:118–124CrossRefGoogle Scholar
  18. 18.
    Kayser M, Caglià A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–149CrossRefGoogle Scholar
  19. 19.
    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 66:1580–1588PubMedCrossRefGoogle Scholar
  20. 20.
    Kurihara R, Yamamoto T, Uchihi R et al (2004) Mutations in 14 Y-STR loci among Japanese father-son haplotypes. Int J Leg Med 118:125–131CrossRefGoogle Scholar
  21. 21.
    Miller SA, Dykes DD, Polesky HF (1988) A single salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215PubMedCrossRefGoogle Scholar
  22. 22.
    Mulero JJ, Budowle B, Butler JM, Gusmão L (2006) Nomenclature and allele repeat structure update for the Y-STR locus GATA H4. J Forensic Sci 51:694PubMedCrossRefGoogle Scholar
  23. 23.
    Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New YorkGoogle Scholar
  24. 24.
    Page RDM (1996) TREEVIEW: an application to display phylogenetic trees on personal computers. Comput Appl Biosci 12:357–358PubMedGoogle Scholar
  25. 25.
    Slatkin M (1995) A measure of population subdivision based on microsatellite allele frequencies. Genetics 139:457–462PubMedGoogle Scholar
  26. 26.
    Turrina S, Atzei R, de Leo D (2006) Y-chromosomal STR haplotypes in a northeast Italian population sample using 17plex loci PCR assay. Int J Leg Med 120:56–59CrossRefGoogle Scholar
  27. 27.
    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 Human Biol 11:481–487PubMedCrossRefGoogle Scholar

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

Personalised recommendations