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使用NGS技术构建和评估一套新的90个用于法医应用的微型类型

Hongdan Wang¹, Bing Kang², Yue Gao²

¹College of Forensic Science, Xi'an Jiaotong University Health Science Center, Xi'an, China; Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Zhengzhou, China; National Health Commission Key Laboratory of Birth Defects Prevention, Henan Key Laboratory of Population Defects Prevention, Zhengzhou, China.

Forensic science international

|October 27, 2023

概括

这项研究开发了90种用于法医应用的微型 (MH),显示出东亚人群的高歧视力. 这些MH是有效的父亲测试和个人识别,可靠的测序性能.

科学领域:

法医遗传学法医遗传学
人口遗传学人口遗传学

背景情况:

微哈普洛型 (MHs),简短链接的SNP,在法医应用中比STR和SNP提供优势.
现有的MH数据集和人口遗传数据是有限的,阻碍了更广泛的法医使用.
带有小安普利康的MH对于退化的样品和复杂的法医场景特别有用.

研究的目的:

开发和验证90个自体MHs的复合系统,用于法医.
评估这些MHS的遗传多样性和法医效率在各种洲际人口中,包括东亚人.
为中国河南汉族人口提供人口频率数据.

主要方法:

在Ion S5TM系统的多重系统中选择和组装90个具有PCR安普利康≤150bp的自体MH.
在五个洲际种群中对90个MH的遗传多样性分析 (PIC,CMP,CPE,In).
从河南汉族人群中对224个非相关个体进行基因型定型,以获得等位基因频率和法医参数 (Ae,He,PIC,MP,DP,PE).
测序性能指标的评估 (覆盖深度,等位基因覆盖率,噪音水平).

主要成果:

在东亚人群中,90个MH表现出高多态信息含量 (PIC>0.4对于83个MH),平均PIC>0.5.
东亚人口的累计匹配概率 (CMP) 和累计排除概率 (CPE) 值最高.
20个MH显示了高度的信息性分配 (In>0.1),适合作为祖先信息标记.
在河南汉族人群中,90 MHs产生了高的歧视力 (CMP < 10^-54,CPE ≈ 1).
放大系统显示出出色的测序性能和可靠性.

结论:

开发的90MH面板具有高的辨别能力和法医效率,特别是在东亚人群中.
该MH面板适用于河南汉族和更广泛的东亚人群的父亲测试和个人识别.
这项研究解决了为法医遗传学扩大 MH 资源和人口数据的需求.

关键词:

河南汉族人口汉族人口微哈普洛型 (MH) 是一个微哈普洛型.下一代测序 (NGS) 是指下一代的测序.简短的双重重复 (STR)

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