在Ion TorrentTM GeneStudioTM S5系统上同时对102个Y-STR进行测序
Fei Guo1, Guangxin Jing2, Yubo Lang3
1Shenyang Medical College, Shenyang, Liaoning 110034, PR China; Key Laboratory of Human Ethnic Specificity and Phenomics of Critical Illness in Liaoning Province, Shenyang, Liaoning 110034, PR China; Key Laboratory of Phenomics in Shenyang City, Shenyang, Liaoning 110034, PR China.
Forensic science international. Genetics
|May 15, 2024
概括
一个新的GrandFiler Y-STR面板使Y染色体短并列重复 (Y-STRs) 的下一代测序 (NGS) 能够用于法医分析. 这种强大而敏感的面板增强了退化的DNA样本分析,并提供了自体和Y-STR综合分析.
科学领域:
- 法医科学 法医科学 法医科学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 下一代测序 (NGS) 平台在法医实验室中被广泛使用.
- 目前的NGS系统往往缺乏全面的Y染色体短串重复 (Y-STR) 分析能力.
- 需要与自动化NGS工作流程兼容的验证Y-STR面板.
研究的目的:
- 为Thermo Fisher科学精密ID NGS系统开发一个Y-STR面板.
- 根据SWGDAM指南评估小组的表现.
- 建立一个结合自体和Y-STR (AY-STR) NGS工作流.
主要方法:
- 使用"分离"和"合并"策略设计GrandFiler Y-STR面板.
- 发展验证包括物种特异性,可复制性,一致性,敏感性,降解样本和混合物.
- 通过将Y-STR面板与商业自体STR面板结合起来,建立一个AY-STR NGS工作流.
主要成果:
- 格兰菲勒Y-STR小组成功检测到102个Y-STR和Amelogenin,显示了高性能指标 (例如,92.47%的基数≥Q20,91.80%的有效读数,2106×覆盖深度).
- 该小组证明了人类男性的高特异性,99.40%的一致性,以及到0.1 ngDNA的敏感性.
- 与毛细管电泳术 (CE) 相比,AY-STR NGS工作流证明是稳定的,并提供了从退化的样本中增强的遗传信息.
结论:
- 格兰菲勒Y-STR面板是第一个在精密ID NGS系统上有效检测大量Y-STR标记器.
- 该面板强大,可靠和敏感,与现有的CE/NGS套件相提并论,适用于真实的法医病例,特别是具有退化的DNA.
- 结合AY-STR NGS工作流提供了法医科学家扩大了各种案例场景的选择.
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