Lee Hwan Young, Park Myung Jin, Chung Ukhee, Lee Han Young, Yang Woo Ick, Cho Sang-Ho, Shin Kyoung-Jin
Department of Forensic Medicine and BK21 Project for Medical Science, Yonsei University College of Medicine, 134 Sinchon-Dong, Seodaemun-Gu, Seoul, 120-752, South Korea.
Int J Legal Med. 2007 Mar;121(2):128-35. doi: 10.1007/s00414-006-0130-x. Epub 2006 Nov 15.
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 x 10(-3) per generation and an average mutation rate estimate of 3.9 x 10(-3) (95% CI 2.7-5.4 x 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 x 10(-3) (95% CI 2.03-2.73 x 10(-33)).
我们分析了355个家庭中369对韩国父子的单倍型传递情况，涉及22个Y染色体短串联重复序列（DYS19、DYS389I/II、DYS390、DYS391、DYS392、DYS393、DYS385、DYS388、DYS437、DYS438、DYS439、DYS446、DYS447、DYS448、DYS449、DYS456、DYS458、DYS464、DYS635和GATA H4.1）。共观察到350种单倍型，总体单倍型多样性为0.9999。其中，345种是独特的，5种出现了两次。此外，鉴定出36个突变，得出每代的位点特异性突变率估计值在0.0至19.0×10⁻³之间，平均突变率估计值为3.9×10⁻³（95%置信区间为2.7 - 5.4×10⁻³）。本研究和先前研究中Y染色体短串联重复序列突变事件的汇总表明，DYS449、DYS458、DYS635、DYS456和DYS439最容易发生突变，它们的总体平均突变率估计值为2.36×10⁻³（95%置信区间为2.03 - 2.73×10⁻³）。
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