Fesenko D O, Ivanovsky I D, Ivanov P L, Zemskova E Yu, Polyakov S A, Fesenko O E, Filippova M A, Zasedatelev A S
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia.
DNA Research Center, LLC, Hkimki, Moscow Oblast, 141402 Russia.
Mol Biol (Mosk). 2023 Jul-Aug;57(4):632-646.
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 1.89x 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.
提出了一组106个插入/缺失(InDel)多态性及其在生物芯片上的基因分型方法,作为遗传个体识别的一种新方法。InDel标记的基本特性是长度短和突变率低,因此与法医领域广泛使用的短串联重复序列(STR)相比具有显著优势。研究了世界上五个最大群体(欧洲、东亚、南亚、非洲和美洲)中所有已知InDel多态性的等位基因频率分布。选择标记满足以下标准: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;侧翼序列中不存在多态性、串联重复序列和回文序列;AT/GC比接近1。由此形成了一组106个多态性;五个群体中的平均MAF估计为0.396。为该组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201名莫斯科和圣彼得堡居民的样本进行了测试,以确定该组的主要特征:随机匹配概率(MP)为1.89×10^(-43),排除父权的联合概率(CPE)为0.99999999063。该方法为基于STR长度变异的分子遗传个体识别提供了一种替代方法。