飞行时间质谱核酸检测技术在临床检测中的应用

The clinical application of time-of-flight mass spectrometry in nucleic acid detection

基质辅助激光解吸电离飞行时间质谱(MALDI-TOF)核酸检测作为一种高通量、高灵敏度、准确便捷的技术已经被广泛应用于多种疾病的分子诊断和研究,特别在药物基因组、肿瘤易感基因、DNA甲基化、遗传学及遗传疾病诊断、细菌病毒分型及耐药等多个领域的应用日益深入,已经成为精准医学不可或缺的分子诊断技术.

As a high-throughput, sensitive, accurate and convenient detection technology, matrix assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF) has been widely used in molecular diagnosis and research of various diseases. The in-depth application is outstanding, particularly in pharmacogenomics, tumor susceptibility gene detection, DNA methylation detection, diagnosis of hereditary diseases, genotyping and drug-resistance detection of bacteria and virus. MALDI-TOF has become an indispensable molecular diagnostic technology for precision medicine.