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云算GPM混合图谱分析系统在混合样本检验中的应用

Application of Cloud-Calculating GPM Mixture Deconvolution System in DNA Mixture Analysis
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摘要 目的运用云算GPM混合图谱分析系统拆分混合样本的DNA图谱,探究该检测系统的去卷积能力。方法通过检测13例混合样本的基因分型,统计其经云算GPM系统去卷积后的各基因座分型结果。结果所有混合图谱均得到有效拆分,主要贡献者的分型准确率(93.04%)高于次要贡献者(50.48%)。包括Amel、D7S820和TH01在内的12个基因座分型准确性较高,提示其可作为嫌疑人排查的优先选择。weight(权重)值大于90%的基因座分型准确率高达99.63%,分型结果完全正确的基因座平均weight值为82.36%±24.68%,表明虽然weight值是判断分型可靠性的有效指标,但该阈值并非是正确分型的充分或必要条件。结论云算GPM混合图谱分析系统对混合样本的去卷积有一定的指导作用,但其分型结果的准确性仍有待进一步提高。 Objective To evaluate the deconvolution ability of the cloud-calculating GPM mixture deconvolution system.Methods Thirteen artificially made mixture samples were genotyped and the contributors’profiles from the mixtures were analyzed using the GPM mixture deconvolution system.Results All the mixed DNA profiles were deconvoluted successfully,and the genotyping accuracy of the major contributors(93.04%)was higher than that of the minor contributors(50.48%).There were 12 loci including Amel,D7S820 and TH01 possessed higher accuracy,indicating these loci might be the first choice for the criminal investigation.The accuracy of the loci whose weight value>90%was as high as 99.63%,and the average weight value of the correctly typed loci was 82.36%±24.68%.The results suggested that although the weight value was an effective cutoff,it was not the necessary and sufficient condition for the genotyping accuracy.Conclusion The cloud-calculating GPM mixture deconvolution system played a guide-role in mixture deconvolution,but the genotyping accuracy need to be improved further.
作者 陈安琪 CHEN Anqi(Department of Forensic Medicine,School of Basic Medical Sciences,Shanghai Medical College,Fudan University,Shanghai 200032,China;Shanghai Key Laboratory of Forensic Medicine,Shanghai Forensic Service Platform,Key Laboratory of Forensic Science,Ministry of Justice,Academy of Forensic Science,Shanghai 200063,China)
出处 《中国司法鉴定》 2023年第5期46-51,共6页 Chinese Journal of Forensic Sciences
基金 国家自然科学基金项目(81930056) 上海市法医学重点实验室资助项目(21DZ2270800) 上海市司法鉴定专业技术服务平台资助项目。
关键词 法医遗传学 混合样本 混合图谱拆分 司法鉴定DNA检验 forensic genetics mixture sample mixture deconvolution forensic DNA analysis
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