Abstract

A panel of 106 insertion/deletion (InDel) polymorphisms and a method of their genotyping on biochips were proposed as a new approach to genetic personal identification. Short lengths and low mutation rates are basic properties of InDel markers, which thus have significant advantages over short tandem repeats (STRs) widely used in forensics. The allele frequency distributions of all known InDel polymorphisms were studied in the five largest world populations (European, East Asian, South Asian, African, and American). Markers were selected to meet the following criteria: the minor allele frequency (MAF) is higher than 0.30; the physical distance between markers is greater than 3 Mb; there are no polymorphisms, tandem repeats, and palindromes in the flanking sequences; the AT/GC ratio is close to 1. A panel of 106 polymorphisms was thus formed; the average MAF was estimated at 0.396 in the five populations. The method developed for panel genotyping included one-step multiplex PCR and subsequent hybridization on a biological microarray. The average amplicon length was 72 bp. A sample of 201 residents of Moscow and St. Petersburg was tested to determine the main characteristics of the panel: the random matching probability (MP) was 1.89× 10^–43 and the combined probability of paternity exclusion (CPE) was 0.99999999063. The method provides an alternative to molecular genetic personal identification based on the STR length variations.

中文翻译：

---

用于遗传个人识别的插入/缺失多态性通用面板和基于生物芯片的试剂盒 ChipID106

摘要

提出了一组 106 个插入/删除 (InDel) 多态性及其在生物芯片上的基因分型方法，作为遗传个人识别的新方法。短长度和低突变率是InDel标记的基本特性，因此与法医学中广泛使用的短串联重复序列（STR）相比具有显着优势。在世界上最大的五个人群（欧洲、东亚、南亚、非洲和美洲）中研究了所有已知 InDel 多态性的等位基因频率分布。选择标记以满足以下标准：次要等位基因频率（MAF）高于0.30；标记之间的物理距离大于 3 Mb；侧翼序列不存在多态性、串联重复和回文；AT/GC比率接近1。由此形成了 106 个多态性组；五个群体的平均 MAF 估计为 0.396。为面板基因分型开发的方法包括一步多重 PCR 和随后在生物微阵列上的杂交。平均扩增子长度为 72 bp。对莫斯科和圣彼得堡的201名居民样本进行了测试，以确定面板的主要特征：随机匹配概率（MP）为1.89×10^–43，父子关系排除 (CPE) 的组合概率为 0.99999999063。该方法提供了基于 STR 长度变化的分子遗传个人识别的替代方案。