染色体微阵列分析技术在胎儿遗传病诊断中的应用

发布时间：2018-01-02 20:24

本文关键词：染色体微阵列分析技术在胎儿遗传病诊断中的应用　出处：《中国产前诊断杂志(电子版)》2016年03期 　论文类型：期刊论文

【摘要】：染色体微阵列分析(chromosomal microarray analysis,CMA)技术是一种通过对染色体进行全基因组扫描,发现染色体组的数目和结构异常的检测技术。CMA以其高分辨率、高效率、高自动化操作等优点,不仅能有效检测传统核型分析技术所能检测的染色体数目异常及非平衡性结构异常,还能检测染色体组亚显微结构水平上不平衡重排引起的拷贝数变异(copy number variation,CNV),成为现代临床遗传学常规诊断工具,并被引入到产前胎儿遗传疾病检测中。本文将就产前胎儿遗传病、胎儿遗传病检测的技术回顾、CMA技术的发展及在胎儿遗传病检测中的应用、优势和面临的挑战等做一个详细的综述。
[Abstract]:Chromosomal microarray analysis (chromosomal microarray, analysis, CMA) is a new technique to perform genome-wide scan of the chromosome, found.CMA detection of chromosome number and structure abnormalities in group with its high resolution, high efficiency, the advantages of high automation, not only can analysis technology can detect the chromosome abnormality and the unbalanced structure abnormal detection can detect traditional karyotype, chromosome ultrastructure level imbalance caused by rearrangement of copy number variation (copy number variation, CNV), a modern clinical genetics routine diagnostic tools, and was introduced into the detection of prenatal genetic diseases. This paper will review the prenatal fetal genetic disease, detection of fetal genetic disease the development of technology, CMA technology and its application in the detection of fetal genetic disease, a detailed review of the advantages and challenges.

【作者单位】：连云港市妇幼保健院生殖遗传科;江苏省妇幼保健院产科;
【分类号】：R714.55
【正文快照】： 遗传病指人体遗传物质(包括细胞核DNA和核外线粒体DNA)发生变异或可遗传性修饰而导致的疾病,可由亲代遗传给子代,故称遗传病。在产前胎儿检测的遗传性疾病中主要包括染色体病、基因病、线粒体病等。目前已发现的人类染色体异常超过10 000种[1],主要包括数目异常,如唐氏综合征2

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