Luo Yuan, Zhang Jiarong, Ni Ming, Mei Zhusong, Ye Qiao, Guo Bingqian, Fang Longmei, Feng Dongyun, Wang Lu, Yan Jiangwei, Wang Guangyun
Laboratory of Clinical Medicine, Air Force Medical Center, Air Force Medical University, PLA, Beijing, P. R. China.
School of Forensic Medicine, Shanxi Medical University, Jinzhong, Shanxi, P. R. China.
Electrophoresis. 2024 May;45(9-10):885-896. doi: 10.1002/elps.202300234. Epub 2024 Feb 14.
Nanopore sequencing technology has broad application prospects in forensic medicine due to its small size, portability, fast speed, real-time result analysis capabilities, single-molecule sequencing abilities, and simple operation. Here, we demonstrate for the first time that nanopore sequencing platforms can be used to identify individuals in the field. Through scientific and reasonable design, a nanopore MinION MK1B device and other auxiliary devices are integrated into a portable detection box conducive to individual identification at the accident site. Individual identification of 12 samples could be completed within approximately 24 h by jointly detecting 23 short tandem repeat (STR) loci. Through double-blinded experiments, the genotypes of 49 samples were successfully determined, and the accuracy of the STR genotyping was verified by the gold standard. Specifically, the typing success rate for 1150 genotypes was 95.3%, and the accuracy rate was 86.87%. Although this study focused primarily on demonstrating the feasibility of full-process testing, it can be optimistically predicted that further improvements in bioinformatics workflows and nanopore sequencing technology will help enhance the feasibility of Oxford Nanopore Technologies equipment for real-time individual identification at accident sites.
纳米孔测序技术因其体积小、便携性强、速度快、具备实时结果分析能力、单分子测序能力以及操作简单等特点,在法医学领域具有广阔的应用前景。在此,我们首次证明纳米孔测序平台可用于现场个体识别。通过科学合理的设计,将纳米孔MinION MK1B设备及其他辅助设备集成到一个便于在事故现场进行个体识别的便携式检测盒中。通过联合检测23个短串联重复(STR)基因座,大约24小时内可完成12个样本的个体识别。通过双盲实验,成功确定了49个样本的基因型,并采用金标准验证了STR基因分型的准确性。具体而言,1150个基因型的分型成功率为95.3%,准确率为86.87%。尽管本研究主要致力于证明全流程检测的可行性,但可以乐观地预测,生物信息学工作流程和纳米孔测序技术的进一步改进将有助于提高牛津纳米孔技术设备在事故现场进行实时个体识别的可行性。