新一代测序技术在HBV变异研究中的应用  

Next-generation sequencing in study of hepatitis B virus variation

作　　者：张欣欣[1] 王铭杰[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院感染科,上海200025

出　　处：《临床肝胆病杂志》2015年第4期514-519,共6页Journal of Clinical Hepatology

摘　　要：HBV在体内复制过程中变异率高,构成HBV准种。研究HBV准种对于乙型肝炎的发病机制、疾病转归以及疗效预测等有重要意义。新一代测序(NGS)技术以其高通量、超深度、高灵敏度的特点被广泛应用于很多生物医学领域,该技术为HBV准种带来了新的研究策略。本文简述了常用的几种NGS技术的原理和特点,回顾了近几年NGS技术在HBV准种检测中的应用,并重点评述了病毒基因组各个功能区的变异和HBV准种的种群特征。就目前已有的研究而言,NGS技术在HBV变异的检测中表现出高通量、高灵敏度等优势,然而其同时存在成本高、测序出错率高、数据处理和个性化分析困难等缺点。如何克服NGS技术的不足,并将其应用于HBV相关基础与临床研究,是目前亟待解决的问题。The high mutation rate during hepatitis B virus （HBV）replication leads to HBV quasispecies.The study of HBV quasispecies has an important significance for the hepatitis B pathogenesis,prognosis,and outcome prediction.Recently,the next-generation sequen-cing （NGS）is extensively used in many biological and medical fields due to its high throughput,ultra-deep coverage,and high sensitivity, which also brings new strategies to HBV quasispecies studies.This article describes the working principles and features of several commonly used NGS technologies,reviews the application of NGS technologies in HBV quasispecies detection in recent years,and particularly discus-ses the variations in different regions of HBV genome and the population characteristics of HBV quasispecies.For now,NGS technologies used in HBV variation detection mainly presents the advantages of high sensitivity and high throughput.However,how to lower the cost,in-crease the accuracy of sequencing,and standardize the procedure of massive sequencing data management and personalized analysis are still challenging problems.The issue about NGS that matters at present and urgently needs to be solved is how to overcome its limitations,and then put it into HBV-related studies and ultimately clinical application.

关 键 词：肝炎病毒 乙型 突变 二代测序 

分 类 号：R512.62[医药卫生—内科学]