Department of Clinical Pharmacy, Jinling Hospital, School of Pharmaceutical Sciences, Southern Medical University, Guangzhou, China.
State Key Laboratory of Analytical Chemistry for Life Science and Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing, China.
IET Nanobiotechnol. 2023 May;17(3):281-288. doi: 10.1049/nbt2.12123. Epub 2023 Mar 10.
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 CYP2C192 and 100 copies/μL of CYP2C193 within 90 min. Further, 20 oral swab samples for CYP2C192 and CYP2C193 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.
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，对于个性化医疗来说，简单方便的基因分型检测方法是必不可少的。在此，我们开发了一种非侵入性、封闭式、可视化的基因分型方法。在该方法中，通过裂解口腔拭子，直接在封闭管中进行 PCR 与嵌套式侵入反应以及基于金纳米颗粒探针的可视化检测。基因分型检测策略取决于侵入反应的单碱基识别特性。该检测方法允许快速、简单地进行样本制备，可在 90 分钟内检测到 25 拷贝/μL 的 CYP2C192 和 100 拷贝/μL 的 CYP2C193。此外，对 20 例 CYP2C192 和 CYP2C193 的口腔拭子样本进行了正确的分型，与焦磷酸测序结果一致，表明该方法在资源有限的地区具有很大的 SNP 分型潜力，可用于指导个性化医疗。
