Development and validation of a cost-effective in-house method, tetra-primer ARMS PCR assay, in genotyping of seven clinically important point mutations
Development and validation of a cost-effective in-house method, tetra-primer ARMS PCR assay, in genotyping of seven clinically important point mutations
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DOI：
10.1016/j.mcp.2011.04.005
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发表时间：
2011-08-01
影响因子：
3.3
通讯作者：
Baris, Ibrahim
中科院分区：
文献类型：
--
作者：
Etlik, Ozdal;Koksal, Vedat;Baris, Ibrahim
单核苷酸多态性（SNP）基因分型目前被认为是一个特别有价值的工具，用于诊断不同的病理。因此，在过去的几年里，人们一直致力于开发准确、快速和成本效益高的SNP分析技术。虽然已经报道了大量不同的方法，但每个实验室都根据其技术和经济能力使用其中一种已公布的方法。本文介绍了一种内部检测方法，四引物ARMS PCR检测，及其在SNP基因分型中的应用。我们已经表明，这种检测方法可能是更有利的PCR-RFLP，真实的时间PCR，和DNA测序相比。我们已经证明，该检测是成功的基因分型使用存档石蜡包埋组织，肝素化样本和羊水胎粪。这些低成本（3美元/反应）检测可在收到标本后3-4小时内完成，从而使实验室有合理的周转时间。由于四引物ARMS PCR检测不需要任何特殊的设备，该检测方法可以在大多数临床诊断实验室中建立。(C)2011爱思唯尔有限公司保留所有权利。
The single nucleotide polymorphism (SNP) genotyping is currently considered as a particularly valuable tool for the diagnosis of different pathologies. For this reason, over the past several years a great deal of effort has been devoted to developing accurate, rapid, and cost-effective technologies for SNP analysis. Although a large number of distinct approaches has been reported each laboratory use one of the published methods based on their technical and economical capacity. This article presents an application of an in-house assay, tetra-primer ARMS PCR assay, and its application in SNP genotyping. We have shown that this assay could be more advantageous when compared with PCR-RFLP, real time PCR, and DNA sequencing. We have shown that the assay is successful in genotyping using archived paraffin-embedded tissues, heparinated samples and amniotic fluids with meconium. These low-costed (3$/reaction) assays could be completed within 3-4 h after specimen receipt allowing for a reasonable turn-around time in the laboratory. Since tetra-primer ARMS PCR assay does not require any special equipment, the assay could be set up in most clinical diagnostic laboratories. (C) 2011 Elsevier Ltd. All rights reserved.