微阵列比较基因组杂交技术的研究进展

Advancement in study on array-based comparative genomic hybridization

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。

Array-based comparative genomic hybridization not only has the advantages of rapid automation, but also has the advantages of high throughput, high sensitivity and high resolution, which can accurately detect genomic variations such as microdeletions and micro-duplications, providing a feasible method for detecting DNA copy number changes in congenital diseases, tumor patients and prenatal diagnosis. In this paper, the basic principle, characteristics, probe types and result analysis of a CGH are introduced respectively;the clinical applications in tumor, congenital disease and prenatal diagnosis were reviewed. It provides a new idea for its wider application in scientific research or clinical.