Development of a SNP-STRs multiplex for forensic identification
Development of a SNP-STRs multiplex for forensic identification
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用于法医鉴定的 SNP-STR 多重分析的开发
DOI：
10.1016/j.fsigss.2015.09.236
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发表时间：
2015-12-01
期刊：
影响因子：
--
通讯作者：
Zhang, L.
中科院分区：
文献类型：
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作者：
Wang, L.;He, W.;Zhang, L.
短串联重复序列（STR）和单核苷酸多态性（SNP）广泛存在于人类基因组中。SNP-STR是一种将STR基因座与紧密连锁的SNPs结合起来的复合遗传标记，比任何单一的多态性都更能提供信息。扩增抗性突变系统（ARMS）可以允许具有特定碱基（例如，SNP）成功扩增，避免了混合物分析中常见的PCR偏倚。本研究的目的是富集在前期研究中获得的rs 25768-D5 S818（D5 S818，来自美国Core Loci）引物，以建立法医学SNP-STR复合扩增方法。从UCSC基因组浏览器中筛选出两个SNP-STR（rs 2246512-D10 S1248和rs 9531308-D13 S317）。利用ARMS软件为每个SNP-STR标记设计2条荧光染料标记的正向SNP等位基因特异性引物，并在STR的30区附近设计一条通用的反向引物。用标准DNA（9947 A）验证了多重PCR的敏感性和特异性。对人工配制的极不平衡混合DNA（1：40）中微量组分（0.05 ng）进行SNP-STR基因型检测。(C)2015爱思唯尔爱尔兰有限公司版权所有。
The short tandem repeat (STR) and single nucleotide polymorphisms (SNP) are widely distributed in human genomes. SNP-STR, a compound genetic marker combining a STR locus with tightly linked SNPs, is more informative than any single polymorphism. The amplification refractory mutation system (ARMS) can allow DNA sample with specific base (e.g., SNP) amplify successfully, which avoids the common PCR bias in the analyses of mixtures. This study aims at enriching the rs25768-D5S818 (D5S818, from U.S. Core Loci) primers obtained in the previous study to develop a forensic SNP-STRs multiplex. Two SNP-STRs (rs2246512-D10S1248 and rs9531308-D13S317) were screened from the UCSC genome browser. Two forward SNP allele-specific primers labelled with different fluorescent dyes for each SNP-STR marker were designed with the ARMS, and a common reverse primer was designed near the 30 region of STR. The amplicons of the three SNP-STRs were profiled via Genetic Analyzer ABI 3130. The sensitivity and specificity of the multiplex were confirmed by using the standard DNA (9947A). The SNP-STR genotype of minor component (0.05 ng) in the artificial extremely unbalanced two DNA mixture (ratio 1: 40) was detected. (C) 2015 Elsevier Ireland Ltd. All rights reserved.