DigiTag assay for multiplex single nucleotide polymorphism typing with high success rate
DigiTag assay for multiplex single nucleotide polymorphism typing with high success rate
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DOI：
10.1016/j.ab.2005.08.007
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发表时间：
2005-11-15
影响因子：
2.9
通讯作者：
Tokunaga, K
中科院分区：
文献类型：
--
作者：
Nishida, N;Tanabe, T;Tokunaga, K
随着人类基因组计划和单核苷酸多态性（SNP）发现计划的开展，已经发现了数百万个SNP，其中包括可能对多因素疾病易感的SNP。因此，已经有强烈的驱动力来对某种疾病的所有候选SNP进行研究，而不减少分析的SNP的数量。我们开发了DigiTag检测，它使用精心设计的寡核苷酸称为DNA编码数（DCN）的多重SNP基因型分析。在分析过程中，使用寡核苷酸连接测定（编码）以一对一的方式将基因型信息转换为一种DCN。编码反应后，使用通用引物仅扩增DCN区域而非SNP特异性区域，然后使用DNA毛细管阵列读出SNP基因型。发现DigiTag测定在SNP基因分型中是成功的，对于随机选择的SNP，成功率高（27个SNP中的24个）。此外，该检测方法通过使用错配诱导探针和重新设计的引物对，具有低成本分析几乎所有类型的目标SNP的潜力。(c)2005年爱思唯尔公司All rights reserved.
As a consequence of Human Genome Project and single nucleotide polymorphism (SNP) discovery projects, several millions of SNPs, which include possible susceptibility SNPs for multifactorial diseases, have been revealed. Accordingly, there has been a strong drive to perform the investigation with all candidate SNPs for a certain disease without decreasing the number of analyzed SNPs. We developed DigiTag assay, which uses well-designed oligonucleotides called DNA coded numbers (DCNs) in multiplex SNP genotype analysis. During the analysis, the information of a genotype is converted to one of the DCNs in a one to one manner using oligonucleotide ligation assay (encoding). After the encoding reaction, only the DCNs regions and not the SNP specific regions are amplified using the universal primers and then SNP genotype is read out using DNA capillary arrays. DigiTag assay was found to be successful in SNP genotyping, giving a high success rate (24 of 27 SNPs) for randomly chosen SNPs. Moreover, this assay has the potential to analyze almost all kinds of the target SNPs by applying mismatch-induced probes and redesigned primer pairs at a low-cost. (c) 2005 Elsevier Inc. All rights reserved.