A Novel SNP-STR System Based on a Capillary Electrophoresis Platform.
A Novel SNP-STR System Based on a Capillary Electrophoresis Platform.
复制标题
DOI：
10.3389/fgene.2021.636821
复制
发表时间：
2021
影响因子：
3.7
通讯作者：
Liang W
中科院分区：
文献类型：
--
作者：
Jian H;Wang L;Lv M;Tan Y;Zhang R;Qu S;Wang J;Zha L;Zhang L;Liang W
在一个小区域内包含两个或多个变异的各种复合标记可以被认为是广义微单倍型。这些标记中的许多已被研究用于各种法医目的，例如个体识别、DNA混合物的解卷积或法医祖先推断。SNP-STR是由单核苷酸多态性（SNP）和紧密连锁的短串联重复序列多态性（STR）组成的复合生物标志物，兼有SNP和STR的优点。此外，SNP-STR与基于扩增难治性突变系统（ARMS）的聚合酶链反应（PCR）技术结合，可用于基于毛细管电泳（CE）的法医不平衡DNA混合物分析，毛细管电泳是全球法医实验室中最常用的平台。我们前期的研究报道了11个SNP-STR，但其中很少有来自常用的STR基因座，现有的STR数据库可以作为参考。为了最大限度地与现有的DNA数据库兼容，在这项研究中，我们筛选了18个SNP-STR基因座，其中14个来自扩展的CODIS核心基因座集。基于CE平台建立了稳定、灵敏的SNP-STR多重PCR检测板。对模拟的两人DNA混合物的分析表明，所有等位基因特异性引物都可以检测到1：500混合物中的次要DNA组分。对113名无血缘关系的成都汉族个体进行了调查。贝叶斯框架的似然比（LR）的SNP-STR分析结果从两个人的混合物的评价。此外，我们报告的第一次使用SNP-STR在个案工作中显示的优点和局限性，在实践中使用。与常染色体STR试剂盒的2.86 × 103相比，在本案例中使用SNP-STR方法的组合LR达到7.14 × 107。
Various compound markers encompassing two or more variants within a small region can be regarded as generalized microhaplotypes. Many of these markers have been investigated for various forensic purposes, such as individual identification, deconvolution of DNA mixtures, or forensic ancestry inference. SNP-STR is a compound biomarker composed of a single nucleotide polymorphism (SNP) and a closely linked short tandem repeat polymorphism (STR), and possess the advantages of both SNPs and STRs. In addition, in conjunction with a polymerase chain reaction (PCR) technique based on the amplification refractory mutation system (ARMS), SNP-STRs can be used for forensic unbalanced DNA mixture analysis based on capillary electrophoresis (CE), which is the most commonly used platform in worldwide forensic laboratories. Our previous research reported 11 SNP-STRs, but few of them are derived from the commonly used STR loci, for which existing STR databases can be used as a reference. For maximum compatibility with existing DNA databases, in this study, we screened 18 SNP-STR loci, of which 14 were derived from the expanded CODIS core loci set. Stable and sensitive SNP-STR multiplex PCR panels based on the CE platform were established. Assays on simulated two-person DNA mixtures showed that all allele-specific primers could detect minor DNA components in 1:500 mixtures. Population data based on 113 unrelated Chengdu Han individuals were investigated. A Bayesian framework was developed for the likelihood ratio (LR) evaluation of SNP-STR profiling results obtained from two-person mixtures. Furthermore, we report on the first use of SNP-STRs in casework to show the advantages and limitations for use in practice. Compared to 2.86 × 103 for autosomal STR kits, the combined LR reached 7.14 × 107 using the SNP-STR method in this casework example.
SNPSTR：复合微卫星-SNP标记的数据库。
影响因子：
14.9
作者：
Agrafioti I;Stumpf MP
通讯作者：
Stumpf MP