Development of a multiplex panel with 31 multi-allelic InDels for forensic DNA typing
Development of a multiplex panel with 31 multi-allelic InDels for forensic DNA typing
复制标题
开发具有 31 个多等位基因 InDels 的多重面板，用于法医 DNA 分型
DOI：
10.1007/s00414-022-02907-w
复制
发表时间：
2022-11-03
影响因子：
2.1
通讯作者：
Xie，Jianhui
中科院分区：
文献类型：
--
作者：
Yao，Yining;Sun，Kuan;Xie，Jianhui
插入/删除（InDel）多态性遗传标记在人类基因组中丰富。双等位InDel标记已被广泛研究用于法医目的，但低多态性信息含量限制了它们的应用，目前的InDel面板仍有待改进。本研究从东亚人群数据集中选取低复杂度序列区域外的多等位基因InDel，构建并优化了包含31个多等位基因InDel标记和淀粉原蛋白标记（FA-HID32plex）的多重扩增系统。对灵敏度、物种特异性、抑制剂耐受性、混合物分辨率和降解样品检测的初步研究表明，FA-HID32plex对痕量和降解样品具有高灵敏度、特异性和鲁棒性。31个多等位基因InDel标记在中国汉族人群中的联合判别力（CPD）为0.999 999 999 999 999 999 999 999 85，累积排除概率（CPE）为0.999 920，具有较高的判别力。总之，FA-HID32plex面板可以为个体识别和亲子鉴定提供可靠的补充或独立信息，特别是对于具有挑战性的样本。
Insertion/Deletion (InDel) polymorphic genetic markers are abundant in human genomes. Diallelic InDel markers have been widely studied for forensic purposes, yet the low polymorphic information content limits their application and current InDel panels remain to be improved. In this study, multi-allelic InDels located out of low complexity sequence regions were selected in the datasets from East Asian populations, and a multiplex amplification system containing 31 multi-allelic InDel markers and the Amelogenin marker (FA-HID32plex) was constructed and optimized. The preliminary study on sensitivity, species specificity, inhibitor tolerance, mixture resolution, and the detection of degraded samples demonstrates that the FA-HID32plex is highly sensitive, specific, and robust for traces and degraded samples. The combined power of discrimination (CPD) of 31 multi-allelic InDel markers was 0.999 999 999 999 999 999 85, and the cumulative probability of exclusion (CPE) was 0.999 920 in a Chinese Han population, which indicates a high discrimination power. Altogether, the FA-HID32plex panel could provide reliable supplements or stand-alone information in individual identification and paternity testing, especially for challenging samples.