标题：微阵列比较基因组杂交技术的研究进展

      作者：马东阳 1，于莉莉 1，刘贵峰 2    1.新乡医学院基础医学院免疫教研室，河南 新乡 453003；2.长春博奥医学检验所有限公司，吉林 长春 130015

      卷次： 2019年30卷23期

      【摘要】 微阵列比较基因组杂交不仅有快速自动化，同时有高通量、高灵敏度及高分辨率等优点，可以精准地对微缺失和微重复等基因组变异进行检测，为先天性疾病、肿瘤患者以及产前诊断中脱氧核糖核酸拷贝数变化的提供了一种切实可行的检测方法。本文对该技术的基本原理、特点、芯片的探针类型和结果分析分别进行了介绍，着重综述了在肿瘤、先天性疾病和产前诊断等领域的临床应用，为其在科研或临床上更广泛的应用提供新的思路。
      【关键词】 微阵列比较基因组杂交技术；基因组变异；拷贝数变化；肿瘤；先天性疾病；产前诊断
      【中图分类号】 R318 【文献标识码】 A 【文章编号】 1003—6350（2019）23—3110—04

Advancement in study on array-based comparative genomic hybridization.
MA Dong-yang 1, YU Li-li 1, LIUGui-feng 2. 1.Department of Immunology, School of Basic Medical Sciences, Xinxiang Medical University, Xinxiang 453003,Henan, CHINA; 2. CapitalBio Medlab Co., Ltd of Changchun, Changchun 130015, Jilin, CHINA【Abstract】 Array-based comparative genomic hybridization not only has the advantages of rapid automation, butalso has the advantages of high throughput, high sensitivity and high resolution, which can accurately detect genomic vari-ations such as microdeletions and micro-duplications, providing a feasible method for detecting DNA copy number chang-es in congenital diseases, tumor patients and prenatal diagnosis. In this paper, the basic principle, characteristics, probetypes and result analysis of aCGH are introduced respectively; the clinical applications in tumor, congenital disease andprenatal diagnosis were reviewed. It provides a new idea for its wider application in scientific research or clinical.
      【Key words】 Array-based comparative genomic hybridization; Genomic variations, Copy number alterations; Tu-mor; Congenital disease; Prenatal diagnosis·综述·doi:10.3969/j.issn.1003-6350.2019.23.036基金项目：国家自然科学基金(编号：81500675)；河南省新乡医学院博士启动基金(编号：2015505084)