Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study

Abstract

A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci. After summing previously reported mutation data with our sample, mutation rates varied between 4.25 × 10−4 (95% CI 0.05 × 10−3–1.53 × 10−3) at DYS438 and 6.36 × 10−3 (95% CI 2.75 × 10−3–12.49 × 10−3) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.

This is a preview of subscription content, access via your institution.

References

  1. 1.

    Alves C, Gomes V, Prata MJ, Amorim A, Gusmão L (2007) Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Portugal. Forensic Sci Int 171(2–3):250–255

    PubMed  Article  CAS  Google Scholar 

  2. 2.

    Ballard DJ, Phillips C, Wright G, Thacker CR, Robson C, Revoir AP, Syndercombe Court D (2005) A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155(1):65–70

    PubMed  Article  CAS  Google Scholar 

  3. 3.

    Berger B, Lindinger A, Niederstätter H, Grubwieser P, Parson W (2005) Y-STR typing of an Austrian population sample using a 17-loci multiplex PCR assay. Int J Legal Med 119(4):241–246

    PubMed  Article  Google Scholar 

  4. 4.

    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(6):1862–1871

    PubMed  Article  CAS  Google Scholar 

  5. 5.

    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):1–15

    PubMed  Article  CAS  Google Scholar 

  6. 6.

    Domingues PM, Gusmão L, da Silva DA, Amorim A, Pereira RW, de Carvalho EF (2007) Sub-Saharan Africa descendents in Rio de Janeiro (Brazil): population and mutational data for 12 Y-STR loci. Int J Legal Med 121(3):238–241

    PubMed  Article  Google Scholar 

  7. 7.

    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(2):117–124

    PubMed  Article  CAS  Google Scholar 

  8. 8.

    Excoffier L, Laval G, Schneider S (2005) Arlequin ver. 3.0: An integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50

    CAS  Google Scholar 

  9. 9.

    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(4):191–200

    PubMed  Article  Google Scholar 

  10. 10.

    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(2):150–157

    PubMed  Article  Google Scholar 

  11. 11.

    Gusmão L, Sánchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Hum Mutat 26(6):520–528

    PubMed  Article  Google Scholar 

  12. 12.

    Heyer E, Puymirat J, Dieltjes P, Bakker E, Knijff P (1997) Estimating Y-chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet 6(5):799–803

    PubMed  Article  CAS  Google Scholar 

  13. 13.

    Hohoff C, Dewa K, Sibbing U, Hoppe K, Forster P, Brinkmann B (2007) Y-chromosomal microsatellite mutation rates in a population sample from northwestern Germany. Int J Legal Med 121(5):359–363

    PubMed  Article  Google Scholar 

  14. 14.

    Holtkemper U, Rolf B, Hohoff C, Forster P, Brinkmann B (2001) Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques. Hum Mol Genet 10(6):629–633

    PubMed  Article  CAS  Google Scholar 

  15. 15.

    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(5):1580–1588

    PubMed  Article  CAS  Google Scholar 

  16. 16.

    Kayser M, Sajantila A (2001) Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int 118(2–3):116–121

    PubMed  Article  CAS  Google Scholar 

  17. 17.

    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(3):125–131

    PubMed  Article  Google Scholar 

  18. 18.

    Lee HY, Park MJ, Chung U, Lee HY, Yang WI, Cho SH, Shin KJ (2007) Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs. Int J Legal Med 121(2):128–135

    PubMed  Article  Google Scholar 

  19. 19.

    Luca F, Basile M, Di Giacomo F, Novelletto A (2005) Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father–son transmissions. Hum Genet 118(2):153–165

    PubMed  Article  CAS  Google Scholar 

  20. 20.

    Mulero JJ, Chang CW, Calandro LM, Green RL, Li Y, Johnson CL, Hennessy LK (2006) Development and validation of the AmpFlSTRYfiler trade mark PCR amplification kit: a male specific, single amplification 17 YSTR multiplex system. J Forensic Sci 51(1):64–75

    PubMed  Article  CAS  Google Scholar 

  21. 21.

    Pontes ML, Caine L, Abrantes D, Lima G, Pinheiro MF (2007) Allele frequencies and population data for 17 Y-STR loci (AmpFlSTR (R) Yfiler trade mark) in a northern Portuguese population sample. Forensic Sci Int 170(1):62–67

    PubMed  Article  CAS  Google Scholar 

  22. 22.

    Silva DA, Carvalho E, Costa G, Tavares L, Amorim A, Gusmão L (2006) Y-chromosome genetic variation in Rio de Janeiro population. Am J Hum Biol 18(6):829–837

    PubMed  Article  Google Scholar 

  23. 23.

    Toscanini U, Gusmão L, Berardi G, Amorim A, Carracedo A, Salas A, Raimondi E (2007) Testing for genetic structure in different urban Argentinean populations. Forensic Sci Int 165(1):35–40

    PubMed  Article  CAS  Google Scholar 

  24. 24.

    Tsai LC, Yuen TY, Hsieh HM et al (2002) Haplotype frequencies of nine Y-chromosome STR loci in the Taiwanese Han population. Int J Legal Med 116(3):179–183

    PubMed  Article  Google Scholar 

  25. 25.

    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 Legal Med 120(1):56–59

    PubMed  Article  Google Scholar 

  26. 26.

    Zhivotovsky LA, Underhill PA, Cinnioglu C et al (2004) The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet 74(1):50–61

    PubMed  Article  CAS  Google Scholar 

Download references

Acknowledgments

IPATIMUP is partially supported by Fundação para a Ciência e a Tecnologia, through POCI (Programa Operacional Ciência e Inovação 2010). P.S.D. is supported by the Isidro Parga Pondal program (Plan Galego de Investigación, Desenvolvemento e Innovación Tecnolóxica-INCITE (2006–2010) from Xunta de Galicia).

Author information

Affiliations

Authors

Consortia

Corresponding author

Correspondence to Paula Sánchez-Diz.

Electronic Supplementary Material

Below is the link to the electronic supplementary material.The following supplementary material is available for this article:

Table S1

List of haplotypes of non-related fathers included in the present study (PDF 31.1 KB).

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Sánchez-Diz, P., Alves, C., Carvalho, E. et al. Population and segregation data on 17 Y-STRs: results of a GEP-ISFG collaborative study. Int J Legal Med 122, 529–533 (2008). https://doi.org/10.1007/s00414-008-0265-z

Download citation

Keywords

  • Y-chromosome haplotypes
  • STRs
  • AmpFlSTR YFiler kit
  • Mutation rates