19个常用STR基因座在中国汉族人群突变的研究
Study of mutation of 19 STR loci in Chinese Han population
目的：目前国内对常用STR基因座突变率尚无统一的共享数据，因此需要全面了解中国汉族人群亲权鉴定中常用STR基因座的突变情况，以期达到提高鉴定结论可靠性的目标。方法：通过试剂盒检测1001例三联体家样本获得突变数据，并统计实验室肯定亲权关系的鉴定案例4005例，将两部分数据合并后再与文献报道的其他地区突变数据合并获得19个STR基因座的平均突变率，同时将获得的数据应用到实际案件中，验证数据的可靠性及准确性。结果：本研究发现了180例突变，与文献数据合并后最终获得了19个STR基因座在中国汉族人群中的不同突变来源的平均突变率，验证结果表明本研究所获得的突变率更为可靠和准确。结论：在亲权鉴定中STR基因座的突变必须考虑，出现突变时应结合准确的突变率数据来计算PI值，本研究所获得的突变率应用于PI计算是可靠的。
Objective: at present, the mutation rate of the commonly used STR loci had not a unified data sharing. Therefore, it was necessary to investigate the mutation of common STR loci in Chinese Han population, in order to improve the reliability of appraisal conclusions. Methods: A total of 1001 cases of triplet sample were analyzed for obtain mutation data, and 4005 parentage confirmed cases were statistical. The two parts of data were merged and these data then were merged with the data reported before. The average mutation rates of 19 STR loci were obtained. And, actual cases were used to verify data reliability. Results: 180 cases of mutation and the average mutation rates of 19 STR loci in Chinese Han population were obtained. The results showed that the mutation rate was more reliable and accurate. Conclusion: STR loci mutation must be considered in paternity testing, the PI value should be calculated with the accuracy of the mutation rate data when the mutation occurs. Mutation rate of this study are reliable for calculating PI value .
罗海玻、宋凤
遗传学生物科学研究方法、生物科学研究技术基础医学
法医学突变率STR亲权鉴定
forensicmutationshort tandem repeat locipaternity testing
罗海玻,宋凤.19个常用STR基因座在中国汉族人群突变的研究[EB/OL].(2015-11-30)[2025-06-04].http://www.paper.edu.cn/releasepaper/content/201511-773.点此复制
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