Shi Mei Sen, Tang Jian Pin, Bai Ru Feng, Yu Xiao Jun, Lv Jun Yao, Hu Bo
Department of Forensic Medicine, Shantou University Medical College, Shantou 515031, Guangdong, People's Republic of China.
Int J Legal Med. 2007 Nov;121(6):455-62. doi: 10.1007/s00414-007-0186-2. Epub 2007 Jul 20.
In this study, 20 Y-specific short tandem repeat (STR) loci (DYS434, Y-GATA-A10, Y-GATA-H4, DYS438, DYS439, DYS443, DYS444, DYS446, DYS447, DYS448, DYS456, DYS458, DYS460, DYS520, DYS531, DYS557, DYS622, DYS630, DYS635(Y-GATA-C4), and DYS709) were analyzed in 158 unrelated healthy men from southeast China by three fluorescence-labeled multiplex polymerase chain reaction systems. The Y-STR multiplexes developed have followed the published nomenclature and International Society for Forensic Genetics (ISFG) guidelines for STR analysis. Gene diversity ranged from 0.2506 at DYS434 to 0.8034 at DYS447. A total of 157 different haplotypes were observed, and among these, 156 were unique, while 1 was found two times. The haplotype diversity value calculated from all 20 loci combined was 0.9997, which is informative. Furthermore, 80 father-son pairs, previously confirmed by autosomal STR analysis, were typed using the same 20 Y-STR loci, and four mutation events were identified at the Y-GATA-H4, DYS439, DYS456, and DYS458 loci, giving an average mutation rate of 0.25% per locus per generation (95% confidence interval 0.09-0.54). These results including the haplotype data at 20 Y-STR loci would enrich Chinese genetic informational resources and provide useful information in forensic practice.
在本研究中，运用三种荧光标记多重聚合酶链反应系统，对来自中国东南部的158名无亲缘关系的健康男性进行了20个Y染色体特异性短串联重复序列（STR）位点（DYS434、Y-GATA-A10、Y-GATA-H4、DYS438、DYS439、DYS443、DYS444、DYS446、DYS447、DYS448、DYS456、DYS458、DYS460、DYS520、DYS531、DYS557、DYS622、DYS630、DYS635(Y-GATA-C4)和DYS709）的分析。所开发的Y-STR多重检测体系遵循已发表的命名法以及国际法医遗传学学会（ISFG）的STR分析指南。基因多样性范围从DYS434的0.2506到DYS447的0.8034。共观察到157种不同的单倍型，其中156种是独特的，1种出现了两次。由全部20个位点组合计算得到的单倍型多样性值为0.9997，具有信息价值。此外，对先前通过常染色体STR分析确认的80对父子，使用相同的20个Y-STR位点进行分型，在Y-GATA-H4、DYS439、DYS456和DYS458位点鉴定出4个突变事件，每个位点每代的平均突变率为0.25%（95%置信区间0.09 - 0.54）。这些结果，包括20个Y-STR位点的单倍型数据，将丰富中国的遗传信息资源，并为法医实践提供有用信息。
