Straightforward, rapid and high-throughput pretreatment for single nucleotide polymorphisms (SNP) genotyping is critically needed in clinical practice. However, all existing SNP genotyping methods require DNA purification step, which is labor-intensive and time-consuming. We develop a protocol for SNP genotyping by combining whole blood lysis (WBL) with qPCR and justify the practicality of our method in blood samples from 140 donors, including 40 samples from healthy donors, and 100 samples from donors with either low white blood cell counts, high level of serum uric acid or triglyceride. When compared with Sanger sequencing, the gold standard for SNP genotyping, our method exhibits a 100% consistency in the aspect of sensitivity and specificity. In addition, our method can obtain amplifiable DNA within 25 mins (which is the fastest to the best of our knowledge) from 48 samples. The blood samples, even with low white blood cell counts, high level of serum uric acid or triglyceride could not affect the sensitivity and specificity of our method. Our study demonstrates that the combination of WBL and qPCR genotyping can serve as a high-throughput and robust approach for routine clinical SNP genotyping.

单核苷酸多态性（SNP）基因分型的直接，快速和高通量预处理在临床实践中至关重要。但是，所有现有的SNP基因分型方法都需要DNA纯化步骤，这是费力且费时的。我们通过将全血裂解（WBL）与qPCR结合起来开发了SNP基因分型方案，并证明了我们方法在140个捐献者的血液样本中的实用性，其中包括40个健康捐献者的样本和100个捐献者白血球计数低的样本，高水平的血清尿酸或甘油三酸酯。与SNP基因分型的金标准Sanger测序相比，我们的方法在敏感性和特异性方面表现出100％的一致性。此外，我们的方法可以在25分钟内（从我们所知最快的角度出发）从48个样品中获得可扩增的DNA。即使白细胞计数低，血尿酸或甘油三酯水平高的血样也不会影响我们方法的灵敏度和特异性。我们的研究表明，WBL和qPCR基因分型的组合可以作为常规临床SNP基因分型的高通量和稳健方法。