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基于二代测序的混合检材精细化分型研究 被引量:7

Next generation sequencing-based precision STR genotyping of mixed samples
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摘要 目的基于二代测序平台进行混合检材精细化STR分型,并评估其法医学应用价值。方法收集性侵案件中3例混合检材及其比对样本,采用M48磁珠提取纯化试剂盒提取样本DNA,使用Foren SeqTM DNA Signature Prep试剂盒制备文库,Mi Seq FGx平台进行测序,Foren SeqTM Universal Analysis v1.2.1软件进行数据分析,将STR序列多态分型与长度多态分型进行比较。结果对3例混合检材STR分型进行拆分,在D3S1358、D13S317与D9S1122基因座发现存在同一长度多态等位基因包含两个个体的序列多态等位基因的情况。结论二代测序技术可对混合检材进行精细鉴别,为混合分型数据拆分提供更多线索和依据。 Objective To genotype mixed samples with next generation sequencing and evaluate its prospects in forensic DNA application. Methods Three mixed biological samples from rapes cases and their reference samples were collected. DNA was extracted using the Mag Attract M48 DNA Manual Kit(200). The Foren SeqTM DNA Signature Prep Kit was used for library preparation, and next generation sequencing was performed on the Mi Seq FGx system. The Foren SeqTM Universal Analysis v1.2.1 software was used for data analysis. NGS-based STR results were compared with CE-based genotypes. Results A single length polymorphic STR allele in the mixed profile could be recognized as two sequence polymorphic STR alleles from different donors, which would assist mixed profile analysis. Such phenomenon was observed in D3 S1358, D9 S1122 and D13 S317 in this work. Conclusion Our results suggested that precision STR genotyping of mixed samples based on NGS can provide more information and hints for mixed STR profile separation.
出处 《中国法医学杂志》 CSCD 2018年第1期22-25,30,共5页 Chinese Journal of Forensic Medicine
基金 国家重点研发计划课题(2017YFC0803503) 国家自然科学基金项目(81601649) 中央级公益性科研院所基本科研业务费项目(2016JB004 2016JB036)
关键词 法医物证学 二代测序 混合检材 短串联重复序列 序列多态性 forensic biological evidence next generation sequencing mixed sample short tandem repeat sequence polymorphism
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