The genotyping of a single-nucleotide polymorphism (SNP) is addressed through methods based on loop-mediated isothermal amplification (LAMP) combined with user-friendly optical read-outs to cover the current demand for point-of-care DNA biomarker detection. The modification of primer design and reaction composition improved the assay selectivity yielding allele-specific results and reducing false-positive frequency. Furthermore, the reduced cost, ease of use and effectiveness of colorimetric detection (solution and hybridisation chip formats) were availed for the image capture by a smartphone, reching high sensitivity. In order to evaluate their discriminating capacities, LAMP-based methods were applied to human samples to genotype a SNP biomarker (rs1954787) located in the GRIK4 gene and related to the treatment response to anti-depressants drugs. Sensitive (limit of detection: 100 genomic DNA copies), reproducible (< 15% error), fast (around 70 min) and low-cost assays were accomplished. Patient subgroups were correctly discriminated, agreeing with reference sequencing techniques. The achieved analytical performances using the developed amplification-detection principles confirmed the approach potential for point-of-care optical DNA testing.

单核苷酸多态性（SNP）的基因分型通过基于环介导的等温扩增（LAMP）和用户友好的光学读数相结合的方法解决，从而满足了即时医疗点DNA生物标志物检测的需求。对引物设计和反应组成的修改提高了测定的选择性，从而产生了等位基因特异性结果并降低了假阳性频率。此外，智能手机可利用降低的成本，易用性和比色检测（溶液和杂交芯片格式）的有效性来捕获图像，从而获得了较高的灵敏度。为了评价它们的鉴别能力，基于LAMP的方法应用于人类样品基因型位于所述一个生物标志物的SNP（rs1954787）GRIK4基因与抗抑郁药的治疗反应有关。完成了灵敏的（检测限：100个基因组DNA拷贝），可重现的（<15％误差），快速的（约70分钟）和低成本的测定。正确区分了患者亚组，与参考测序技术相符。使用发达的扩增检测原理获得的分析性能证实了现场即时光学DNA测试的潜在方法。