Liu Qiu-Ling, Chen Ye-Fei, Zang Yu, Liu Kai-Yan, Zhao Hu, Lu De-Jian
Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, 74 Zhongshan 2nd Road, Guangzhou 510080, China; Guangdong Province Translational Forensic Medicine Engineering Technology Research Center, Sun Yat-sen University, 74 Zhongshan 2nd Road, Guangzhou 510080, China.
Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, 74 Zhongshan 2nd Road, Guangzhou 510080, China.
Leg Med (Tokyo). 2018 Nov;35:73-76. doi: 10.1016/j.legalmed.2018.09.012. Epub 2018 Sep 24.
Two loci concurrent mutations in non-exclusion paternity case were reported based on 19 STR loci available from Goldeneye™ DNA ID System 20A (Peoplespot, Beijing, China). When 9508 family trios with Paternity index (PI) threshold of >10,000 was analyzed, 14 families show mutations at two loci. The paternity was confirmed by using an additional 19 STR markers. When the probability of occurrence of two mutations was compared with the expected probability deduced from binomial model, the observed mutational probability was significantly larger than the expectation. However, the characteristics of mutations agree with those reported previously. Our result indicates that larger samples is still need to estimate mutation rates accurately and reveal the relationship between mutations with multiple loci and the characterization of human mutations based on microsatellites.
基于中国北京博星卓越金睛20A基因身份鉴定系统提供的19个STR基因座,报道了非排除亲权案件中的两个基因座同时发生突变的情况。当分析9508个三联体家庭,亲权指数(PI)阈值>10000时,有14个家庭在两个基因座发生突变。通过使用另外19个STR标记物确认了亲权关系。当将两个突变发生的概率与二项式模型推导的预期概率进行比较时,观察到的突变概率明显大于预期。然而,突变特征与先前报道的一致。我们的结果表明,仍需要更大的样本量来准确估计突变率,并揭示基于微卫星的多位点突变与人类突变特征之间的关系。