Single nucleotide polymorphism (SNP) typing is crucial for drug dosage and disease progression. Therefore, a simple and convenient genotyping assay is essential for personalised medicine. Herein, we developed a non-invasive, closed-tube, and visualised method for genotyping. In this method, oral swabs were lysed to directly perform PCR coupled with nested invasive reaction and visualisation based on gold nanoparticle probes in a closed tube. The strategy for genotyping assay depends on the single base recognition property of invasive reaction. This assay allowed quick and simple sample preparation and the detection of 25 copies/μL of CYP2C19*2 and 100 copies/μL of CYP2C19*3 within 90 min. Further, 20 oral swab samples for CYP2C19*2 and CYP2C19*3 were correctly typed, which agreed with pyrosequencing, indicating that this method has great potential for SNP typing in source-limited regions to guide personalised medicine.

中文翻译：

---

通过金纳米粒子探针辅助的嵌套侵入性反应，在封闭管中使用口腔拭子进行可视化基因分型测定。

单核苷酸多态性 (SNP) 分型对于药物剂量和疾病进展至关重要。因此，一种简单方便的基因分型检测对于个性化医疗至关重要。在此，我们开发了一种非侵入性、闭管和可视化的基因分型方法。在该方法中，裂解口腔拭子以直接进行 PCR，并在封闭管中基于金纳米粒子探针进行嵌套侵入式反应和可视化。基因分型分析的策略取决于侵入反应的单碱基识别特性。该测定允许快速简单的样品制备，并在 90 分钟内检测出 25 拷贝/μL 的 CYP2C19*2 和 100 拷贝/μL 的 CYP2C19*3。此外，CYP2C19*2 和 CYP2C19*3 的 20 个口腔拭子样本被正确分型，这与焦磷酸测序一致，