以二代测序技术为基础的遗传病新型分子生物学检测技术研究进展  

Research advances in new molecular technologies for detecting chromosomal diseases based on Next Generation Sequencing

作　　者：魏玲[1,2] 刘晓婷 边立华[3] 邵玲俐[2] 张立文[2] 李宝明[1] WEI Ling;LIU Xiaoting;BIAN Lihua;SHAO Lingli;ZHANG Liwen;Li Baoming(Beijing Centre for Physical and Chemical Analysis,Beijing 100089,China;Medical Laboratory Center,the First Medical Center,Chinese PLA General Hospital,Beijing 100853,China;Department of Obstetrics and Gynecology,the First Medical Center,Chinese PLA General Hospital,Beijing 100853,China)

机构地区：[1]北京市理化分析测试中心,北京100089 [2]解放军总医院第一医学中心医学检验中心,北京100853 [3]解放军总医院海南医院妇产科,海南三亚572013

出　　处：《解放军医学院学报》2019年第9期831-833,836,共4页Academic Journal of Chinese PLA Medical School

基　　金：北京市科技计划课题(Z181100001918018)~~

摘　　要：传统的染色体病检测技术具有耗时长、分辨率低以及耗费人力的缺点。随着高通量测序技术的发展,直接检测DNA或其扩增产物,就能准确、快速地诊断染色体病。本文综述了基于高通量测序技术的拷贝数变异检测技术、无创产前染色体病分子生物学检验技术、胚胎植入前遗传学检测技术的研究进展。Traditional detection techniques for chromosomal disease have some limitations,such as time and labor consuming as well as low resolution.With the development of high-throughput sequencing technology,direct detection of DNA or its amplification products can accurately and quickly diagnose chromosomal diseases.In this paper,we review the progresses in copy number variation detection technology based on second-generation high-throughput sequencing technology(CNV-Seq),non-invasive prenatal testing technology(NIPT),and preimplantation genetic testing technology(preimplantation genetic diagnosis,PGD;preimplantation genetic screening,PGS;noninvasive chromosome screening,maritime European communications satellite,MaReCS).

关 键 词：二代测序 遗传疾病 产前检查 

分 类 号：R440[医药卫生—诊断学] R714.55[医药卫生—临床医学]