全基因组测序在医学应用进展  

Whole Genome Sequencing Progress in Medical Application

作　　者：李晓明[1,2] 杨莹[1,2] 彭辉[2] 刘永莹[2] 龙钦鹏 

机构地区：[1]大理学院临床医学院,大理671000 [2]云南省第二人民医院,昆明650021

出　　处：《基因组学与应用生物学》2015年第5期1071-1075,共5页Genomics and Applied Biology

基　　金：国家自然科学基金项目(81260135)资助

摘　　要：目前,仍有很多疾病的发病机制未明确,然而,利用新一代测序技术对生物体进行全基因组测序,为很多疾病的发病机制提供了新的理论依据。那么,全基因组测序在医学那些方面有运用?本人通过阅读国外近五年有关全基因组测序的研究论文发现,全基因组测序能够广泛应用于遗传疾病、肿瘤、感染性疾病、传染性流行病、判断个体疾病易感性、生物进化等多种疾病的诊断与治疗。本文从遗传疾病、肿瘤、感染性疾病、传染性流行病、判断个体疾病易感性和生物进化几个方面综述全基因组测序在医学应用进展。At present, there are still a lot of diseases pathogenesis not clear, but making use of a new generation of sequencing technology to organisms conduct whole genome sequencing, which for the pathogenesis of many diseases provide a new theoretical basis. So, Which aspects the whole genome sequencing in medical use? In this article, I got through reading the whole genome sequencing of research papers about abroad nearly five years finding that the whole genome sequencing could be widely used in genetic disease, tumor, infectious diseases,infectious epidemic, judge the individual susceptibility to disease, the diagnosis and treatment of a variety of diseases such as biological evolution. This paper reviewed the whole genome sequencing progress in medical application from a genetic disease, tumor, infectious diseases, infectious epidemic, determine the individual susceptibility and biological evolution.

关 键 词：全基因组 全基因组测序 全基因组测序应用 

分 类 号：R394[医药卫生—医学遗传学]