International Journal of Legal Medicine

, Volume 121, Issue 2, pp 128–135

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

Authors

  • Hwan Young Lee
    • Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of Medicine
  • Myung Jin Park
    • Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of Medicine
  • Ukhee Chung
    • Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of Medicine
  • Han Young Lee
    • Department of Forensic MedicineNational Institute of Scientific Investigation
  • Woo Ick Yang
    • Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of Medicine
    • Human Identification Research CenterYonsei University
  • Sang-Ho Cho
    • Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of Medicine
    • Human Identification Research CenterYonsei University
    • Department of Forensic Medicine and BK21 Project for Medical ScienceYonsei University College of Medicine
    • Human Identification Research CenterYonsei University
Original Article

DOI: 10.1007/s00414-006-0130-x

Cite this article as:
Lee, H.Y., Park, M.J., Chung, U. et al. Int J Legal Med (2007) 121: 128. doi:10.1007/s00414-006-0130-x

Abstract

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).

Keywords

Y chromosome STRHaplotypesMutation rateKoreans

Supplementary material

414_2006_130_MOESM1_ESM.pdf (33 kb)
Table S1Distribution of 22 Y-STR haplotypes in 355 unrelated Koreans (PDF 32.5 kB)

Copyright information

© Springer-Verlag 2006