Skip to main content
SpringerLink
Log in

Mutations in 14 Y-STR loci among Japanese father-son haplotypes

  • Original Article
  • Published:
International Journal of Legal Medicine Aims and scope Submit manuscript

Abstract

In the present study 161 Japanese father/son haplotype transfers in 147 pedigrees were analyzed at 14 Y-STRs with two multiplex PCR-based typing systems. Five isolated single repeat mutations were identified at the DYS389I, DYS439, Y-GATA-H4, DYS389II and DYS391 loci, and a pedigree showing triple alleles at the DYS385 locus (a duplicate locus) without allelic discrepancy between the father and son was also observed. The overall mutation rate estimated across the 14 Y-STRs in the Japanese population was 0.22%/locus/meiosis (95% C.I. 0.09–0.51%). This rate was not significantly different (p>0.05) from those of autosomal STRs and Y-STRs in other populations, including German, Austrian, Polish and Norwegian populations. Furthermore, 138 haplotypes were identified in 147 pedigrees with a haplotype diversity value of 0.9983. Therefore, a combination of the two systems should permit effective analysis with sufficient discriminatory power.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E, Krawczak M, Knijff P de (1996) Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet 5:1029–1033

    CAS  PubMed  Google Scholar 

  2. Prinz M, Boll K, Baum H, Shaler B (1997) Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci Int 85:209–218

    CAS  PubMed  Google Scholar 

  3. Redd AJ, Clifford SL, Stoneking M (1997) Multiplex DNA typing of short-tandem-repeat loci on the Y chromosome. Biol Chem 378:923–927

    CAS  PubMed  Google Scholar 

  4. Gusmão L, González-Neira A, Pestoni C, Brión M, Lareu MV, Carracedo A (1999) Robustness of the Y STRs DYS19, DYS389I and II, DYS390 and DYS393: optimization of a PCR pentaplex. Forensic Sci Int 106:163–172

    CAS  PubMed  Google Scholar 

  5. Butler JM, Schoske R, Vallone PM, Kline MC, Redd AJ, Hammer MF (2002) A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci Int 129:10–24

    Article  CAS  PubMed  Google Scholar 

  6. Uchihi R, Yamamoto T, Usuda K et al. (2003) Haplotype analysis with 14 Y-STR loci using 2 multiplex amplification and typing systems in 2 regional populations in Japan. Int J Legal Med 117:34–38

    PubMed  Google Scholar 

  7. Gill P, Brenner C, Brinkmann B et al. (2001) DNA Commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs. Int J Legal Med 114:305–309

    CAS  PubMed  Google Scholar 

  8. Casella G (1987) Refining binomial confidence intervals. Can J Stat 14:113–129

    Google Scholar 

  9. Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human micro-satellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408–1415

    CAS  PubMed  Google Scholar 

  10. 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

    CAS  PubMed  Google Scholar 

  11. Dupuy BM, Andreassen R, Flønes AG et al. (2001) Y chromosome variation in a Norwegian population sample. Forensic Sci Int 117:163–173

    Article  CAS  PubMed  Google Scholar 

  12. Valdes AM, Slatkin M, Freimer NB (1993) Allele frequencies at microsatellite loci: the stepwise mutation model revisited. Genetics 133:737–749

    CAS  PubMed  Google Scholar 

  13. Di Rienzo A, Petersion AC, Garza JC, Valdes AM, Slatkin M, Freimer NB (1994) Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci U S A 91:3166–3170

    PubMed  Google Scholar 

  14. Chakraborty R, Kimmel M, Stivers DN, Davison LJ, Deka R (1997) Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci. Proc Natl Acad Sci U S A 94:1041–1046

    CAS  PubMed  Google Scholar 

  15. Petes TD, Greenwell PW, Dominska M (1997) Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae. Genetics 146:491–498

    CAS  PubMed  Google Scholar 

  16. Wierdl M, Dominska M, Petes TD (1997) Microsatellite instability in yeast: dependence on the length of the microsatellite. Genetics 146:769–779

    CAS  PubMed  Google Scholar 

  17. Schlötterer C, Ritter R, Harr B, Brem G (1998) High mutation rate of a long microsatellite allele in Drosophila melanogaster provides evidence for allele-specific mutation rates. Mol Biol Evol 15:1269–1274

    PubMed  Google Scholar 

  18. Sajantila A, Lukka M, Syvänen AC (1999) Experimentally observed germline mutation at human micro- and minisatellite loci. Eur J Hum Genet 7:263–266

    CAS  PubMed  Google Scholar 

  19. Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123–1128

    CAS  PubMed  Google Scholar 

  20. Ohta T, Kimura M (1973) The model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a genetic population. Genet Res 22:201–204

    PubMed  Google Scholar 

  21. Levinson G, Gutman GA (1987) Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol 4:203–221

    CAS  PubMed  Google Scholar 

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

    CAS  PubMed  Google Scholar 

  23. Bianchi NO, Catanesi CI, Bailliet G, Martinez-Margnac VL, Bravi CM, Vidal-Rioja LB, Herrera RJ (1998) Characterisation of ancestral and derived Y-chromosome haplotypes of new world native populations. Am J Hum Genet 63:1862–1871

    PubMed  Google Scholar 

  24. Xu X, Peng M, Fang Z, Xu X (2000) The direction of microsatellite mutations is dependent upon allele length. Nat Genet 24:396–399

    Article  CAS  PubMed  Google Scholar 

  25. Rolf B, Keil W, Brinkmann B, Roewer L, Fimmers R (2001) Paternity testing using Y-STR haplotypes: assigning a probability for paternity in cases of mutations. Int J Legal Med 115:12–15

    PubMed  Google Scholar 

  26. Forster P, Röhl A, Lünnemann P, Brinkmann C, Zerjal T, Tyler-Smith C, Brinkmann B (2000) A short tandem repeat-based phylogeny for the human Y chromosome. Am Hum Genet 67: 182–196

    Article  CAS  Google Scholar 

  27. Santos FR, Gerelsaikhan T, Munkhtuja B, Oyunsuren T, Epplen JT, Pena SDJ (1996) Geographic differences in the allelic frequencies of the human Y-linked tetranucleotide polymorphism DYS19. Hum Genet 97:39–313

    PubMed  Google Scholar 

  28. Kayser M, Caglià A, Corach D et al. (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Legal Med 110:125–133

    CAS  PubMed  Google Scholar 

  29. Redd AJ, Clifford SL, Stoneking M (1997) Multiplex DNA typing of short-tandem-repeat loci on the Y chromosome. Biol Chem 378:923–927

    CAS  PubMed  Google Scholar 

Download references

Acknowledgements

This work was supported in part by Grants-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology of Japan.

Author information

Authors and Affiliations

  1. Department of Legal Medicine and Bioethics, Graduate School of Medicine Nagoya University, 466-8550, Nagoya, Japan

    Rina Kurihara, Toshimichi Yamamoto, Rieko Uchihi, Shi-Lin Li, Takashi Yoshimoto, Hiroyuki Ohtaki & Yoshinao Katsumata

  2. DNA-Fingerprint Division, TSL Inc., 3-5-5 Midorigaoka , 205-0003, Hamura Tokyo , Japan

    Kiyofumi Kamiyama

Authors
  1. Rina Kurihara
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Toshimichi Yamamoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rieko Uchihi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Shi-Lin Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Takashi Yoshimoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Hiroyuki Ohtaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Kiyofumi Kamiyama
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Yoshinao Katsumata
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Rina Kurihara.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kurihara, R., Yamamoto, T., Uchihi, R. et al. Mutations in 14 Y-STR loci among Japanese father-son haplotypes. Int J Legal Med 118, 125–131 (2004). https://doi.org/10.1007/s00414-003-0422-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00414-003-0422-3

Keywords

Search

Navigation