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细菌全基因组关联研究的方法与应用
引用本文:杨超,杨瑞馥,崔玉军. 细菌全基因组关联研究的方法与应用[J]. 遗传, 2018, 40(1): 57-65. DOI: 10.16288/j.yczz.17-303
作者姓名:杨超  杨瑞馥  崔玉军
作者单位:军事医学科学院微生物流行病研究所,病原微生物生物安全国家重点实验室,北京 100071
基金项目:病原微生物生物安全国家重点实验室自主课题(SKLPBS1405)
摘    要:随着测序技术的发展和全基因组序列的不断积累,全基因组关联研究(genome-wide association study, GWAS)在人类复杂疾病研究中取得了丰硕成果,10余年间发现了数以万计的疾病风险因子。同样,GWAS也为探索细菌表型的遗传机制提供了新的工具。自2013年第一项细菌GWAS(bacterial GWAS, BGWAS)工作发表以来,目前已有10多项相关研究报道,分别揭示了细菌宿主适应性、耐药性及毒力等表型的遗传机制,极大加深了人们对细菌遗传、进化及传播等方面的认识。本文对目前BGWAS的研究方法、应用成果及存在的问题进行了总结,并对BGWAS的研究前景进行了展望,旨在为微生物学领域开展BGWAS研究提供参考。

关 键 词:全基因组关联研究  细菌  全基因组测序  表型  遗传机制  
收稿时间:2017-09-13

Bacterial genome-wide association study: methodologies and applications
Affiliation:State Key Laboratory of Pathogen and Biosecurity, Institute of Microbiology and Epidemiology, Beijing 100071, China
Abstract:With the development of genome sequencing and the accumulation of whole genome sequences, genome-wide association study (GWAS) has achieved remarkable advances in understanding of human complex disease, and tens of thousands of disease risk factors have been found. Meanwhile, GWAS provides a new tool for exploring the genetic mechanism of bacterial phenotypes. Since the publication of the first bacterial GWAS (BGWAS) work in 2013, there have been more than 10 reports, which reveal the genetic basis of host adaption, drug resistance and virulence, etc. These findings greatly enhance our understanding on genetics, evolution and spread of bacteria. In this review, we summarize the current methodologies, applications and problems of BGWAS and highlight its potential in future research, which aims to provide helps for the applications of BGWAS in the field of microbiology.
Keywords:genome-wide association study  bacteria  whole genome sequencing  phenotype  genetic mechanism  
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