[Universal Panel of Insertion/Deletion Polymorphisms and Biochip-Based Kit ChipID106 for Genetic Personal Identification].

D O Fesenko, I D Ivanovsky, P L Ivanov, E Yu Zemskova, S A Polyakov, O E Fesenko, M A Filippova, A S Zasedatelev
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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 1.89x 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.

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[用于遗传个体鉴定的插入/缺失多态性和基于生物芯片的试剂盒ChipID106的通用面板]。
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,作为一种新的基因个人识别方法。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)相比具有显著优势。研究了世界上五大人群(欧洲、东亚、南亚、非洲和美国)中所有已知InDel多态性的等位基因频率分布。选择符合以下标准的标记:次要等位基因频率(MAF)高于0.30;标记之间的物理距离大于3Mb;侧翼序列中没有多态性、串联重复和回文;AT/GC比率接近于1。由此形成了一个由106个多态性组成的小组;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72bp。对莫斯科和圣彼得堡的201名居民样本进行了测试,以确定该小组的主要特征:随机匹配概率(MP)为1.89x10^(-43),亲子关系排除的综合概率(CPE)为0.99999999063。该方法提供了一种替代基于STR长度变异的分子遗传个人鉴定的方法。
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来源期刊
Molekulyarnaya Biologiya
Molekulyarnaya Biologiya Medicine-Medicine (all)
CiteScore
0.70
自引率
0.00%
发文量
131
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