Mesquita Silvia G, Donnelly Owain, Archer John, Lugli Elena B, Webster Bonnie
Wolfson Wellcome Biomedical Laboratories, Department of Science, Natural History Museum, Cromwell Road, London, SW7 5BD, UK.
Malaria Biochemistry Laboratory, The Francis Crick Institute, 1 Midland Road, London, NW1 1AT, UK.
Sci Rep. 2025 Apr 19;15(1):13590. doi: 10.1038/s41598-025-95887-x.
Accurate diagnosis of schistosomiasis is crucial to achieve disease elimination as a public health problem. Rapid and highly sensitive diagnostic tools that can be used in decentralized environments and/or at the point-of-care are needed. This work optimises and simplifies an existing isothermal molecular diagnostic platform (recombinase polymerase amplification, RPA) for urogenital schistosomiasis, the ShDraI-RPA, with a focus on delivering a more accurate diagnosis in endemic settings. The standard ShDraI-RPA oligonucleotides were modified, incorporating a phosphorothioate backbone into the reverse primer and inverting the probe fluorophore and quencher, to prevent false positive results due to secondary structure formation. The sensitivity and specificity of the modified assay were evaluated on a donor urine spiked with one S. haematobium egg and an array of other schistosomes and human urinary tract pathogens. The stability of RPA reagents was assessed by storing them at ambient temperature (± 27 °C) in a dark environment for up to 90 days. Sample preparations were explored to develop a simple, rapid and low resource methodology that would complement the ShDraI-RPA platform when used in remote settings. The modified ShDraI-RPA assay was robust, sensitive and specific to S. haematobium group species, detecting down to 10 fg of gDNA and ten synthetic Dra I copies. DNA amplification was achieved at 42 °C within 20 min and results could easily be visualized using a portable fluorometer or under blue light. RPA reagents remained stable when stored in the absence of light at ± 27 °C for up to 30 days. A two-step DNA extraction method proved optimal for extracting DNA from single S. haematobium eggs in spiked urine. The optimized ShDraI-RPA platform shows improved specificity and sensitivity and has now reached several of the target product profile requirements set out by the WHO for the ideal diagnostic test for schistosomiasis.
准确诊断血吸虫病对于实现将该疾病作为公共卫生问题予以消除至关重要。需要能够在分散环境和/或护理点使用的快速且高度灵敏的诊断工具。这项工作对现有的用于泌尿生殖系统血吸虫病的等温分子诊断平台(重组酶聚合酶扩增,RPA)即ShDraI-RPA进行了优化和简化,重点是在流行地区提供更准确的诊断。对标准的ShDraI-RPA寡核苷酸进行了修饰,在反向引物中引入硫代磷酸酯主链,并将探针荧光团和猝灭剂倒置,以防止由于二级结构形成而产生假阳性结果。在添加了一个埃及血吸虫卵以及一系列其他血吸虫和人类泌尿道病原体的供体尿液上评估了改良检测方法的灵敏度和特异性。通过将RPA试剂在黑暗环境中室温(±27°C)下储存长达90天来评估其稳定性。探索了样本制备方法,以开发一种简单、快速且资源消耗少的方法,在用于偏远地区时能与ShDraI-RPA平台相辅相成。改良的ShDraI-RPA检测方法对埃及血吸虫属物种具有稳健性、灵敏性和特异性,可检测低至10 fg的基因组DNA和十个合成Dra I拷贝。在42°C下20分钟内即可实现DNA扩增,使用便携式荧光计或在蓝光下可轻松观察结果。当在±27°C无光条件下储存长达30天时RPA试剂仍保持稳定。一种两步DNA提取方法被证明是从加样尿液中的单个埃及血吸虫卵提取DNA的最佳方法。优化后的ShDraI-RPA平台显示出更高的特异性和灵敏度,现已达到世界卫生组织为理想的血吸虫病诊断检测设定的若干目标产品特性要求。