中国北京汉族人群13个RM Y染色体短串联重复序列基因座的突变分析
Mutation analysis of 13 RM Y-STR loci in Han population from Beijing of China.
作者信息
Yuan Li, Chen Wen, Zhao Dong, Li Yunli, Hao Shicheng, Liu Yan, Lu Di
机构信息
Shanghai Key Laboratory of Forensic Medicine, Academy of Forensic Science, Ministry of Justice, PR, China, Shanghai, 200063, People's Republic of China.
Key Laboratory of Evidence Science, Ministry of Education and Collaborative Innovation Center of Judicial Civilization, China University of Political Science and Law, Beijing, 100088, People's Republic of China.
出版信息
Int J Legal Med. 2019 Jan;133(1):59-63. doi: 10.1007/s00414-018-1949-7. Epub 2018 Oct 23.
Two five-color fluorescence multiplex amplification systems of 13 Y chromosome short tandem repeat (Y-STR) loci (DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) have been designed. A study was conducted measuring the mutation rates of the 13 Y-STRs in 501 father-son pairs of Han origin in Beijing, China. Among 7515 allele transmissions in 501 father-son pairs, 75 single-step and 2 two-step mutations were observed. Two father-son pairs had mutations at two different loci in 13 Y-STRs. The estimated mutation rates ranged from 2.00 × 10 (95% CI 1.00 × 10 to 1.11 × 10) for the DYF387S1, DYF403S1b, DYS526a, and DYS449 loci to 4.59 × 10 (95% CI 2.93 × 10 to 6.81 × 10) for the DYF399S1 locus. The average mutation rate is 1.02 × 10 (95% CI 8.10 × 10 to 1.28 × 10). Among these Y-STR markers, only DYF399S1, DYS627, DYF403S1a, DYS547, DYS612, and DYS626 had mutation rates higher than 1.00 × 10.
已设计出两个包含13个Y染色体短串联重复序列（Y-STR）基因座（DYF387S1、DYF399S1、DYF403S1a/b、DYF404S1、DYS449、DYS518、DYS526a/b、DYS547、DYS570、DYS576、DYS612、DYS626和DYS627）的五色荧光多重扩增系统。在中国北京对501对汉族父子进行了一项研究，测量这13个Y-STR的突变率。在501对父子的7515次等位基因传递中，观察到75次单步突变和2次两步突变。两对父子在13个Y-STR中的两个不同基因座发生了突变。估计的突变率范围从DYF387S1、DYF403S1b、DYS526a和DYS449基因座的2.00×10⁻⁴（95%可信区间1.00×10⁻⁴至1.11×10⁻³）到DYF399S1基因座的4.59×10⁻³（95%可信区间2.93×10⁻³至6.81×10⁻³）。平均突变率为1.02×10⁻³（95%可信区间8.10×10⁻⁴至1.28×10⁻³）。在这些Y-STR标记中，只有DYF399S1、DYS627、DYF403S1a、DYS547、DYS612和DYS626的突变率高于1.00×10⁻³。
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