DNA分析技术在单基因遗传病产前诊断中的研究进展  

Research progress of DNA analysis technology in prenatal diagnosis of monogenic genetic diseases

作　　者：刘宁 王超[1] 王芳芳[1] 刘羽[1] 张玉红[1] 张婷[1] 田婷婷 刘梅梅[1] LIU Ning;WANG Chao;WANG Fangfang;LIU Yu;ZHANG Yuhong;ZHANG Ting;TIAN Tingting;LIU Meimei(The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, 150086)

机构地区：[1]哈尔滨医科大学附属第二医院,150081

出　　处：《中国计划生育学杂志》2021年第9期2007-2012,共6页Chinese Journal of Family Planning

摘　　要：单基因遗传病是导致新生儿出生缺陷的主要原因之一,在医疗技术发达的今天,仍无有效的根治方法。产前诊断能够在妊娠早期及妊娠中期对单基因遗传病家系中的高危胎儿进行遗传学检测分析,能有效减少具有遗传学缺陷的胎儿出生。DNA分析技术是单基因遗传病产前诊断的重要环节,不同DNA分析技术联合相关生化检测可以显著提高胎儿单基因遗传病的检出率。DNA分析技术种类繁多、方法各异、各有利弊,针对单基因遗传病相关DNA分析技术包括Sanger测序技术、二代测序技术、三代测序技术;其相关生化检测技术包括数字PCR技术、环化单分子扩增和重测序技术等。相信随着DNA分析技术的完善与革新,单基因遗传病的产前诊断技术会有更好的临床应用前景,将更加有效地降低我国单基因遗传病的出生缺陷率。Monogenic disease is one of the main causes of birth defects in newborns,which still cannot be cured effectively even if the development of medical technology today.Prenatal diagnosis can be used for genetic analysis of high-risk of monogenic disease of fetuses during the first and second trimester of pregnancy,which can effectively reduce the birth of fetuses with genetic defects.DNA analysis technology is an important link in prenatal diagnosis of monogenic disease.Different DNA analysis techniques combined with related biochemical tests can significantly improve the detection rate of monogenic disease of fetuses.There are a wide variety of DNA analysis technologies with different advantages and disadvantages.This paper focuses on DNA analysis technologies related to monogenic disease,including Sanger sequencing technology,next-generation sequencing technology,the third-generation sequencing technology,and the related biochemical detection techniques of single gene genetic diseases,including digital PCR,cyclocyclic single molecule amplification and resequencing technologies.It is believed that with the improvement and innovation of DNA analysis technology,the prenatal diagnosis technology of monogenic disease will have better clinical application prospect,and will more effectively reduce the rate of birth defects of monogenic disease in China.

关 键 词：单基因遗传病 产前诊断 DNA分析技术 生化检测技术 

分 类 号：R714.55[医药卫生—妇产科学] R440[医药卫生—临床医学]