International Journal of Legal Medicine

, Volume 119, Issue 4, pp 195–201 | Cite as

Y-chromosomal STR haplotypes and their applications to forensic and population studies in east Asia

  • Kyoung Don Kwak
  • Han Jun Jin
  • Dong Jik Shin
  • Jung Min Kim
  • Lutz Roewer
  • Michael Krawczak
  • Chris Tyler-Smith
  • Wook Kim
Original Article


We have analyzed 11 Y-STR loci (DYS19, the two DYS385 loci, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DXYS156Y) in 700 males from ten ethnic groups in east Asia in order to evaluate their usefulness for forensic and population genetic studies. A total of 644 different haplotypes were identified, among which 603 (86.14%) were individual-specific. The haplotype diversity averaged over all populations was 0.9997; using only the nine Y-STRs comprising the “minimal haplotype” (excluding DYS388 and DXYS156Y) it was 0.9996, a value similar to that found in 1924 samples from other Asian populations (0.9996; Lessig et al. Legal Medicine 5(2003) 160–163), and slightly higher than in European populations (0.9976; n=11,610; Roewer et al. For Sci International (2001) 118:103–111). All of the individual east Asian populations examined here had high haplotype diversity (≥0.997), except for the Mongolians (0.992) and Manchurians (0.960). The most frequent haplotype identified by the nine markers was present at only 1% (7/700). Population comparisons based on ΦST or ρ genetic distance measures revealed clustering according to the traditional northeast–southeast distinction, but with exceptions. For example, the Yunnan population from southern China lay among the northern populations, possibly reflecting recent migration, while the Korean population, traditionally considered northern, lay at the boundary between northern and southern populations. An admixture estimate suggested 55(51–59)% northern, 45(41–49)% southern contribution to the Koreans, illustrating the complexity of the genetic history of this region.


Y chromosome STRs Forensic genetics Phylogeny East Asia 



We would like to thank M.F. Hammer and B. Brinkmann for providing reference DNA samples. Special thanks go to the volunteers for proving DNA samples. This work was supported by a grant from the Korean Science and Engineering Foundation (KOSEF F05-2001-000-00572-0), and C.T.S. is supported by The Wellcome Trust.

Supplementary material

414_2004_518_ESM_supp.pdf (569 kb)
(PDF 569 KB)


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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Kyoung Don Kwak
    • 1
  • Han Jun Jin
    • 1
  • Dong Jik Shin
    • 1
  • Jung Min Kim
    • 1
  • Lutz Roewer
    • 2
  • Michael Krawczak
    • 3
  • Chris Tyler-Smith
    • 4
  • Wook Kim
    • 1
  1. 1.Department of Biological SciencesDankook UniversityCheonanSouth Korea
  2. 2.Institute of Legal MedicineCharité-University Medicine BerlinBerlinGermany
  3. 3.Institute of Medical Informatics and StatisticsChristian-Albrechts-UniversityKielGermany
  4. 4.The Wellcome Trust Sanger InstituteWellcome Trust Genome CampusCambridgeUK

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