摘要
介绍了核酸质谱仪的组成、工作原理以及其检测单核苷酸多态性(single nucleotide polymorphism,SNP)的流程,阐述了核酸质谱仪在遗传性耳聋筛查、遗传性代谢疾病诊断、心血管疾病精准用药、肿瘤靶向治疗、病原体分型与耐药检测中的临床应用,指出了国内通用型核酸质谱仪在临床应用的获批以及试剂盒的不断研发生产将使该设备在疾病的诊断和机制研究中具有更广泛的应用。
The construction and working principle of the nucleic acid mass spectrometer were presented, and the test procedure when used for detecting single nucleotide polymorphism(SNP) was described. The clinical application of the nucleic acid mass spectrometer was expounded in the screening of hereditary deafness, diagnosis of hereditary metabolic diseases, precision drug use for cardiovascular diseases, tumor targeted therapy, pathogen typing and drug resistance detection. It’s pointed out that China-made general-purpose nucleic acid mass spectrometer approved for clinical application and the continuously developing kits would contribute a lot to the diagnoses and mechanism researches of diseases.
作者
张阳东
宋秀军
高峥
牛冬梅
吕进
楚瑞雪
ZHANG Yang-dong;SONG Xiu-jun;GAO Zheng;NIU Dong-mei;LYU Jin;CHU Rui-xue(Research Department,PLA Rocket Force Characteristic Medical Center,Beijing 100088,China;No.96606 Military Hospital of PLA Rocket Force,Luoyang 471003,Henan Province,China;Lishilu Clinic,Central Medical Branch of Chinese PLA General Hospital,Beijing 100820,China)
出处
《医疗卫生装备》
CAS
2023年第1期87-92,共6页
Chinese Medical Equipment Journal
基金
火箭军特色医学中心科研创新项目(417471J)。
关键词
核酸质谱仪
基质辅助激光解吸电离飞行时间质谱
SNP
基因分型
出生缺陷筛查
个性化医疗
nucleic acid mass spectrometer
matrix-assisted laser desorption/ionization time-of-flight mass spectrometry
single nucleotide polymorphism
genotyping
birth defect screening
personalized medicine
作者简介
张阳东(1970-),男,博士,主任技师,主要从事基础医学方面的研究工作,E-mail:zhangyd262@163.com;通信作者:楚瑞雪,E-mail:churuixue666@163.com。
