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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

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 STR Haplotypes Mutation rate Koreans 

Notes

Acknowledgment

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)

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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

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