1. Hunan Key Laboratory of Green Packaging and Application of Biological Nanotechnology, Hunan University of Technology, Zhuzhou 412007, P. R. China ; 2. State Key Laboratory of Bioelectronics, Department of Biological Science and Medical Engineering. Southeast University, Nanjing 210096, P. R. China.
Theranostics. 2012;2(10):967-75. doi: 10.7150/thno.5032. Epub 2012 Oct 9.
To fulfill the increasing need for large-scale genetic research, a high-throughput and automated SNPs genotyping method based on gold magnetic nanoparticles (GMNPs) array and dual-color single base extension has been designed. After amplification of DNA templates, biotinylated extension primers were captured by streptavidin coated gold magnetic nanoparticle (SA-GMNPs). Next a solid-phase, dual-color single base extension (SBE) reaction with the specific biotinylated primer was performed directly on the surface of the GMNPs. Finally, a "bead array" was fabricated by spotting GMNPs with fluorophore on a clean glass slide, and the genotype of each sample was discriminated by scanning the "bead array". MTHFR gene C677T polymorphism of 320 individual samples were interrogated using this method, the signal/noise ratio for homozygous samples were over 12.33, while the signal/noise ratio for heterozygous samples was near 1. Compared with other dual-color hybridization based genotyping methods, the method described here gives a higher signal/noise ratio and SNP loci can be identified with a high level of confidence. This assay has the advantage of eliminating the need for background subtraction and direct analysis of the fluorescence values of the GMNPs to determine their genotypes without the necessary procedures for purification and complex reduction of PCR products. The application of this strategy to large-scale SNP studies simplifies the process, and reduces the labor required to produce highly sensitive results while improving the potential for automation.
为了满足大规模遗传研究的日益增长的需求,设计了一种基于金磁纳米粒子(GMNPs)阵列和双色单碱基延伸的高通量和自动化 SNP 基因分型方法。在 DNA 模板扩增后,生物素化的延伸引物被链霉亲和素包被的金磁纳米粒子(SA-GMNPs)捕获。然后,在 GMNPs 表面直接进行固相、双色单碱基延伸(SBE)反应,使用特定的生物素化引物。最后,通过在干净的玻璃载玻片上用荧光团点样 GMNPs 来制作“珠子阵列”,并通过扫描“珠子阵列”来区分每个样品的基因型。使用该方法检测了 320 个个体样本的 MTHFR 基因 C677T 多态性,纯合样本的信号/噪声比超过 12.33,而杂合样本的信号/噪声比接近 1。与其他基于双色杂交的基因分型方法相比,本文所述的方法给出了更高的信号/噪声比,并且可以高度置信地识别 SNP 位点。该检测方法具有无需背景扣除的优点,并且可以直接分析 GMNPs 的荧光值来确定其基因型,而无需进行 PCR 产物的纯化和复杂还原等必要步骤。这种策略在大规模 SNP 研究中的应用简化了流程,减少了产生高灵敏度结果所需的劳动力,同时提高了自动化的潜力。