SNP–STR polymorphism: A sensitive compound marker for forensic genetic applications
SNP–STR polymorphism: A sensitive compound marker for forensic genetic applications
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SNP-STR 多态性：法医遗传学应用的敏感复合标记
DOI：
10.1016/j.fsigss.2013.10.106
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发表时间：
2013
影响因子：
--
通讯作者：
Lin Zhang
中科院分区：
文献类型：
--
作者：
M.A. Rothschild;P. Bai;W. Liang;Lin Zhang
许多常规STR和SNP多重试剂盒可以分析大量标记，但不能在同一反应中对STR和SNP进行分型。我们已经探索了一种在一个称为SNP-STR的单一反应中对STR和SNPs进行分型的方法，该方法将来自侧翼区域的SNPs与STR多态性联系起来。这允许基于在侧翼区域中观察到的连锁SNP等位基因来定义STR等位基因的亚型。SNP-STR在基因组中广泛存在，基因分型技术与常规STR分析相同。从UCSC基因组浏览器中选择彼此连锁且距离小于500 bp的SNP和STR对。该方法使用扩增难治性突变系统（ARMS）扩增靶SNP。两条正向等位基因特异性引物用不同的荧光标记，反向引物位于STR的另一个侧翼区，与SNP连接。通过该方法，可以在一个反应中通过扩增子的大小和扩增子的不同颜色对STR和SNP的两个等位基因进行基因分型。rs 25768位于D5 S818的12 bp处，D5 S818是法医学鉴定中常用的基因。根据ARMS-PCR的要求，设计了rs 25768的2条等位基因特异性引物，在5′端分别用JOE和6-FAM标记，反向引物位于STR序列的另一侧。为了增加特异性，在等位基因特异性引物的3′-末端的-1和-2处引入了有意的错配。通过EZ 1从95个无关的欧洲个体中提取DNA样本。用ABI 3130型遗传分析仪扩增1ul DNA。人工配制了一组1：40 ~ 40：1的二人不平衡混合液，最低浓度为0.05ng。我们使用两个等位基因特异性引物和其中一个单独的混合物进行基因分型。
Many routine STR and SNP multiplex kits can analyze a large number of markers but cannot type STRs and SNPs in the same reaction. We have explored a method for typing STRs and SNPs in a single reaction named SNP–STR that links SNPs from a flanking region with the STR polymorphism. This allows defining subtypes of STR alleles based on the linked SNP allele observed in the flanking region. The SNP–STRs are widespread in the genome and the genotyping techniques are the same as for routine STR profiling. Pairs of SNPs and STRs linked to each other and at a distance of less than 500 bp were selected from the UCSC genome browser. The method amplifies the target SNP using the amplification refractory mutation system (ARMS). The two forward allele-specific primers are labeled by different fluorescent and the reverse primer is located at the other flanking region of the STR which is linked to the SNP. Through this method, both alleles of the STR and the SNP can be genotyped by the size of the amplicons and the different colors of the amplicons in one reaction. The rs25768 is located 12 bp from the D5S818 which is frequently used in forensic identification. Two allele-specific primers for rs25768 were designed according to the requirement of ARMS-PCR which were labeled by JOE and 6-FAM at the 5′-terminus respectively, and the reverse primer located at the other side of the STR sequence. To increase the specificity, a deliberate mismatch was introduced to the allele-specific primers at −1 and −2 from the 3′-terminus. The DNA samples were extracted from 95 unrelated European individuals through EZ1. 1ul DNA was amplified and profiled by Genetic Analyzer ABI 3130. A set of two-person unbalanced mixture were generated artificially from 1:40 to 40:1, and the lowest concentration is 0.05 ng. We used the both two allele-specific primers and only one of them separately to genotype the mixtures.
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影响因子：
3.9
作者：
Castella, Vincent;Gervaix, Joelle;Hall, Diana
通讯作者：
Hall, Diana
DOI：
10.1016/j.fsigen.2012.06.002
发表时间：
2012-12
期刊：
Forensic science international. Genetics
影响因子：
--
作者：
Gill P;Gusmão L;Haned H;Mayr WR;Morling N;Parson W;Prieto L;Prinz M;Schneider H;Schneider PM;Weir BS
通讯作者：
Weir BS
影响因子：
2.2
作者：
Munoz, Claudio;Gomez Talquenca, Sebastian;Lanza Volpe, Melisa
通讯作者：
Lanza Volpe, Melisa
影响因子：
3.7
作者：
Zhang C;Liu Y;Ring BZ;Nie K;Yang M;Wang M;Shen H;Wu X;Ma X
通讯作者：
Ma X