在21个A-STR和21个Y-STR中使用大规模并行测序来描述延伸侧面区域的序列变化
Hui Li1,2, Beixu Li3, Yanan Liu4,5
1Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Key Laboratory of Forensic Science, Ministry of Justice, Academy of Forensic Sciences, Shanghai, 200063, China.
BMC genomics
|September 7, 2024
概括
大规模并行测序 (MPS) 通过分析短串重复 (STR) 和它们的侧边区域来增强法医学遗传学. 这种先进的MPS系统在人口研究中提高了对自体性STR和Y-STR的识别能力.
科学领域:
- 法医遗传学 法医遗传学
- 人口遗传学 人口遗传学
- 分子生物学分子生物学
背景情况:
- 大规模并行测序 (MPS) 在分析短串重复 (STR) 方面比毛细管电泳 (CE) 有优势.
- 以前的研究通常集中在STR核心区域,对远端侧边区域多态的分析有限.
- 了解这些变异对于提高法医识别准确度至关重要.
研究的目的:
- 开发和评估一个MPS系统进行全面的STR分析,包括侧边地区.
- 评估序列和长度变化的对法医STR基因定型的影响.
- 为了比较不同分析方法 (基于长度,基于核心序列和基于完整序列) 的区分能力.
主要方法:
- 为42个法医STR位点 (21个自体,21个Y染色体) 开发两套多重PCR系统.
- 来自中国汉族人口的350名男性个体的基因定型.
- 基于长度 (LB),核心重复序列 (RSB) 和包括侧边区域 (FSB) 在内的完整序列的变体的分类和分析.
主要成果:
- 该MPS系统检测到58个侧边区域变异 (53个SNP/SNV,5个InDels),主要是自体性STR.
- 序列变异,特别是在侧边区域,显著提高了MPS-STR基因型鉴定对自体性STRs的识别能力.
- 在MPS和CE方法之间观察到很高的一致性,验证了MPS系统.
结论:
- 开发的MPS系统提供了来自法医STR的更深层次的遗传信息.
- 纳入侧边区域分析可以增强MPS-STR基因型定型的歧视力.
- 这项研究通过揭示更全面的STR变异来推进MPS在法医遗传学的应用.
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