International Journal of Legal Medicine

, Volume 121, Issue 2, pp 128–135 | Cite as

Haplotypes and mutation analysis of 22 Y-chromosomal STRs in Korean father–son pairs

  • Hwan Young Lee
  • Myung Jin Park
  • Ukhee Chung
  • Han Young Lee
  • Woo Ick Yang
  • Sang-Ho Cho
  • Kyoung-Jin Shin
Original Article


We analyzed 369 Korean father/son haplotype transfers in 355 families at 22 Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS437, DYS438, DYS439, DYS446, DYS447, DYS448, DYS449, DYS456, DYS458, DYS464, DYS635, and GATA H4.1). A total of 350 haplotypes were observed with an overall haplotype diversity of 0.9999. Among these, 345 were unique and five were found twice. Furthermore, 36 mutations were identified, giving locus-specific mutation rate estimates between 0.0 and 19.0 × 10−3 per generation and an average mutation rate estimate of 3.9 × 10−3 (95% CI 2.7–5.4 × 10−3). The compilation of Y-STR mutation events for the present study and previous studies demonstrates that DYS449, DYS458, DYS635, DYS456 and DYS439 are the most prone to mutations and that their overall average mutation rate estimate is 2.36 × 10–3 (95% CI 2.03–2.73 × 10–33).


Y chromosome STR Haplotypes Mutation rate Koreans 



This work was supported by the Brain Korea 21 Project for Medical Science. The authors would like to thank Dr. Yong-Woog Lee (Idgene, Korea), Dr. Yong Suk Nam (Kogene Biotech, Korea), and all concerned people of Sungnam Middle School (Korea) for their participation and guidance in sample collection.

Supplementary material

414_2006_130_MOESM1_ESM.pdf (33 kb)
Table S1 Distribution of 22 Y-STR haplotypes in 355 unrelated Koreans (PDF 32.5 kB)


  1. 1.
    Roewer L, Arnemann J, Spurr NK, Grzeschik KH, Epplen JT (1992) Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts. Hum Genet 89:389–394PubMedCrossRefGoogle Scholar
  2. 2.
    Jobling MA, Tyler-Smith C (1995) Fathers and sons: the Y chromosome and human evolution. Trends Genet 11:449–456PubMedCrossRefGoogle Scholar
  3. 3.
    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
  4. 4.
    Kayser M, Caglià A, Corach D et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–133, 141–149Google Scholar
  5. 5.
    Kwak KD, Jin HJ, Shin DJ et al (2005) Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia. Int J Leg Med 119:195–201CrossRefGoogle Scholar
  6. 6.
    Kayser M, Sajantila A (2001) Mutations at Y-STR loci: implications for paternity testing and forensic analysis. Forensic Sci Int 118:116–121PubMedCrossRefGoogle Scholar
  7. 7.
    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
  8. 8.
    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
  9. 9.
    Zerjal T, Dashnyam B, Pandya A et al (1997) Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:1174–1183PubMedGoogle Scholar
  10. 10.
    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
  11. 11.
    Lahermo P, Savontaus ML, Sistonen P, Béres J, de Knijff P, Aula P, Sajantila A (1999) Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami. Eur J Hum Genet 7:447–458PubMedCrossRefGoogle Scholar
  12. 12.
    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
  13. 13.
    Tsai LC, Yuen TY, Hsieh HM, Lin M, Tzeng CH, Huang NE, Linacre A, Lee JC (2002) Haplotype frequencies of nine Y-chromosome STR loci in the Taiwanese Han population. Int J Leg Med 116:179–183CrossRefGoogle Scholar
  14. 14.
    Berger B, Niederstätter H, Brandstätter A, Parson W (2003) Molecular characterization and Austrian Caucasian population data of the multi-copy Y-chromosomal STR DYS464. Forensic Sci Int 137:221–230PubMedCrossRefGoogle Scholar
  15. 15.
    Dupuy BM, Stenersen M, Egeland T, Olaisen B (2004) Y-chromosomal microsatellite mutation rates: differences in mutation rate between and within loci. Hum Mutat 23:117–124PubMedCrossRefGoogle Scholar
  16. 16.
    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
  17. 17.
    Ballard DJ, Phillips C, Wright G, Thacker CR, Robson C, Revoir AP, Court DS (2005) A study of mutation rates and the characterisation of intermediate, null and duplicated alleles for 13 Y chromosome STRs. Forensic Sci Int 155:65–70PubMedCrossRefGoogle Scholar
  18. 18.
    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
  19. 19.
    de Souza Goes AC, de Carvalho EF, Gomes I, da Silva DA, Gil EH, Amorim A, Gusmao L (2005) Population and mutation analysis of 17 Y-STR loci from Rio de Janeiro (Brazil). Int J Leg Med 119:70–76CrossRefGoogle Scholar
  20. 20.
    Gusmão L, Sánchez-Diz P, Calafell F et al (2005) Mutation rates at Y chromosome specific microsatellites. Hum Mutat 26:520–528PubMedCrossRefGoogle Scholar
  21. 21.
    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
  22. 22.
    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 Leg Med 119:241–246CrossRefGoogle Scholar
  23. 23.
    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 Leg Med 120:191–200CrossRefGoogle Scholar
  24. 24.
    Nei M (1997) Molecular evolutionary genetics. Columbia University Press, New YorkGoogle Scholar
  25. 25.
    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 GenevaGoogle Scholar
  26. 26.
    Clopper CJ, Pearson ES (1934) The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 26:404–413CrossRefGoogle Scholar
  27. 27.
    Evett I, Weir B (1998) Interpreting DNA evidence: statistical genetics for forensic scientists. Sinauer Associates, Sunderland, MassachusettsGoogle Scholar
  28. 28.
    Butler JM, Schoske R (2005) US population data for the multi-copy Y-STR locus DYS464. J Forensic Sci 50:975–977PubMedGoogle Scholar
  29. 29.
    Weber JL, Wong C (1993) Mutation of human short tandem repeats. Hum Mol Genet 2:1123–1128PubMedCrossRefGoogle Scholar
  30. 30.
    Zhivotovsky LA, Feldman MW (1995) Microsatellite variability and genetic distances. Proc Natl Acad Sci U S A 92:11549–11552PubMedCrossRefGoogle Scholar
  31. 31.
    Xu X, Peng M, Fang Z (2000) The direction of microsatellite mutations is dependent upon allele length. Nat Genet 24:396–399PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Hwan Young Lee
    • 1
  • Myung Jin Park
    • 1
  • Ukhee Chung
    • 1
  • Han Young Lee
    • 2
  • Woo Ick Yang
    • 1
    • 3
  • Sang-Ho Cho
    • 1
    • 3
  • Kyoung-Jin Shin
    • 1
    • 3
  1. 1.Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of MedicineSeoulSouth Korea
  2. 2.Department of Forensic MedicineNational Institute of Scientific InvestigationSeoulSouth Korea
  3. 3.Human Identification Research CenterYonsei UniversitySeoulSouth Korea

Personalised recommendations