细胞遗传及分子诊断技术在染色体病检测中的应用进展  

Progress in the application of cytogenetics and molecular diagnosis in the detection of chromosomal diseases

作　　者：罗颖花(综述) 黄际卫(审校)[1] LUO Ying-hua;HUANG Ji-wei(Biobank and Department of Medical GeneticsLiuzhou Maternal and Child Healthcare Hospital)

机构地区：[1]柳州市妇幼保健院,柳州市生殖与遗传研究所,广西科技大学附属妇产医院、儿童医院,广西柳州545001

出　　处：《中国优生与遗传杂志》2020年第10期1167-1169,共3页Chinese Journal of Birth Health & Heredity

基　　金：柳州市科学研究与技术开发项目(2018DB20501,2018BJ10301,2018AF10504);广西卫健委科技计划项目(Z20170529)。

摘　　要：显带染色体分析技术是基于细胞遗传学发展的技术,核酸检测是基于分子遗传学的检测技术;在细胞遗传学和分子遗传学基础上衍生出了荧光原位杂交技术;细胞遗传学的进步带来了多种不同的染色体显带技术,分子遗传学的发展带来了基于核酸检测的胎儿无创DNA检测、高通量低深度测序技术等新技术。这技术的发展给染色体病的检测带来了新的进步。本文就染色体分析技术在染色体病检测中的应用简要综述。Chromosomal analysis technology is based on the development of cytogenetics,nucleic acid detection is based on the detection technology of molecular genetics;fluorescence in situ hybridization technology is derived from cytogenetics and molecular genetics;the progress of cytogenetics has brought many different chromosomal banding technologies,and the development of molecular genetics has brought non-invasive DNA of fetus based on nucleic acid detection Detection,high-throughput low-depth sequencing technology and other new technologies.The development of this technology has brought new progress to the detection of chromosomal diseases.In this paper,the application of chromosome analysis technology in the detection of chromosomal diseases is reviewed.

关 键 词：染色体畸变 染色体显带分析技术 分子核型分析 拷贝数变异 

分 类 号：R73[医药卫生—肿瘤]