协和医学杂志

2018, v.9(05) 448-452

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二代测序技术在微生物和感染性疾病中的应用
Application of Next Generation Sequencing in Clinical Microbiology and Infectious Diseases

黄晶晶;肖盟;徐英春;
HUANG Jing-jing;XIAO Meng;XU Ying-chun;Department of Clinical Laboratory,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

摘要(Abstract):

随着感染性疾病防治在卫生保健方面的重要性日益凸显,感染性疾病引起的社会关注逐渐增多,新技术在人类预防和控制病原体传播方面发挥着巨大作用。微生物实验室作为病原体检测的一线科室,通过镜检、培养、鉴定、药敏等方法,在感染控制中发挥着重要作用。传统分子诊断和基因分型方法提供的信息有限,通常不能满足疫情暴发和传播调查需求。二代测序技术(next-generation sequencing,NGS)在单次序列测定中可确定菌株基因组完整的DNA序列,并从这些数据中得到抗菌药物耐药性、毒力及分型等可用于疫情调查的信息,进一步用于开展疫情特异性筛查。本文概述NGS技术及其在医院感染性疾病暴发调查、未知病原体鉴定、毒力分析、耐药基因组研究等临床微生物领域中的应用。
With the increasing importance of the prevention and treatment of infectious diseases in health care and the increasing social concern caused by infectious diseases,new technologies are crucial for preventing and controlling the spread of pathogens. The microbiology laboratory has always being playing a significant role as the first line of pathogen detection in infection control by carrying on smear microscopy,culture,identification,and susceptibility testing. Information provided by traditional molecular diagnostics and genotyping methods is limited,which can not satisfy the requirement of epidemiologic investigation on the outbreak and spread of communicable diseases. Next-generation sequencing determines the DNA sequence of a complete bacterial genome in a single sequencing run,from which information on resistance,virulence and typing is obtained. It is useful for investigation into the outbreak. The obtained genome data can be further used for developing an outbreak-specific screening test. In this review,a general introduction to next-generation sequencing and its applications in clinical microbiology including outbreak management,identification of unknown pathogens,taxonomy,and research on resistant genomes are presented.

关键词(KeyWords): 二代测序技术;临床微生物学;感染性疾病
next-generation sequencing;clinical microbiology;infectious diseases

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基金项目(Foundation): 中国医学科学院医学与健康科技创新工程项目(2016-12M-1-014)

作者(Author): 黄晶晶;肖盟;徐英春;
HUANG Jing-jing;XIAO Meng;XU Ying-chun;Department of Clinical Laboratory,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

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