遗传新技术在生殖安全中的应用进展  

Application of New Genetic Techniques in the Study of Reproductive Security

作　　者：刘赟[1] 

机构地区：[1]复旦大学生物医学研究院,上海200032

出　　处：《国际生殖健康／计划生育杂志》2013年第6期424-426,432,共4页Journal of International Reproductive Health/Family Planning

摘　　要：作为一种减少出生缺陷率,确保生殖安全的重要手段,产前诊断已经成为产科护理的一种重要手段。最近分子遗传学新技术的大力发展正在改变产前诊断尤其是非侵入性产前诊断的面貌。介绍3种遗传学新技术及其在产前诊断方面的应用,包括使用比较基因组学杂交芯片技术检测染色体结构变异,深度测序技术和数字相对突变剂量计数法在非侵入性产前诊断方面的应用,技术的快速革新和临床应用的全面开展凸显这几个遗传新技术在产前研究方面的重要作用。As an important way to reduce birth defects and to ensure reproductive safety, prenatal diagnosis has become an important part of obstetric care. Recent advancement in genetic techniques has improved the prenatal diagnosis, especially non-invasive prenatal diagnosis （NIPD）. In this commentary, three most representative genetic techniques and their application in prenatal diagnosis were introduced ,including the array CGH using in detecting chromosomal structural variation, the deep sequencing and the digital relative mutation dosage using in NIPD. Those techniques innovated rapidly, as well as their clinical application, manifested their importance in prenatal diagnosis and clinical study.

关 键 词：产前诊断 基因组 基因扩增 杂交 遗传 序列分析 DNA 数字相对突变剂量计数法 

分 类 号：R714.5[医药卫生—妇产科学]