中国人群亲权鉴定常用STR基因座平均突变率的估计

目的对亲权鉴定中常用STR基因座在中国人群中的平均突变率进行估计,并与美国人群中的相应数据进行比较。方法突变数据来自按拟定标准筛选获得的15篇国内文献及本中心数据。对中国不同地区同一STR基因座突变率无显著差异的突变数据进行合并,计算中国人群该STR基因座的平均突变率,并采用Poisson分布的近似正态分布法计算该STR基因座平均突变率的95%可信区间。对中国人群和美国人群中常用STR基因座平均突变率的95%可信区间进行比较。结果 Identifiler和PowerPlex 16两个系统所包含的17个亲权鉴定常用STR基因座在中国不同地区人群中的突变率无显著差异,合并计算其平均突变率介于0.0120%～0.2078%,不同STR基因座的平均突变率差异显著（P〈0.0001）。这17个亲权鉴定常用STR基因座在中国人群中的累积突变率达到1.9836%。结论本研究通过文献分析获得中国大样本人群的FGA等17个STR基因座突变率数据,对于疑似突变案例的累积亲权指数计算具有借鉴价值。

Estimation of average mutation rates of routine STR loci in Parentage testing

Objective To estimate average mutation rates of routine STR loci in paternal testing of Chinese population by literature analysis.Methods Mutation data was obtained from 15 published papers in China according to a serial of criteria and accumulation in Guangdong Hengzheng Forensic Identification Center.According to the Poisson distribution, mutation data of each STR locus in different region of China were compared and the mutation data of same STR locus from different region of China were combined to calculate the average mutation rate of the STR locus.95% confidence intervals （95%CI） of the average mutation rates were also determined according to the Poisson distribution.Average mutation rates of each STR locus were compared between Chinese population and American population.Results Average mutation rates of the 17 STR loci including in Identifiler and PowerPlex 16 systems were ranged from 0.0120% to 0.2078% , which was statistically different （P0.0001）.According to the average mutation rate, accumulated mutation rate of the 17 STR loci was as high as 1.9836% in Chinese population.Conclusion Average mutation rates of the 17 STR loci were obtained by literature analysis, which was useful in CPI calculation of those cases with suspected mutation STR loci.