应用PCR技术对DMD患者进行缺失检测与产前基因诊断  

Deletion Detection and Prenatal Diagnosis of Duchenne Muscular Dystrophy Families Using PCR Method

作　　者：周海燕[1] 邹永华[1] 

机构地区：[1]湖南省计划生育研究所湖南省现代优生技术重点实验室,中国湖南长沙410002

出　　处：《生命科学研究》2006年第4期346-349,共4页Life Science Research

基　　金：湖南省科技发展项目(01SSY2007)

摘　　要：运用聚合酶链式反应(polymerasechainreaction,PCR)技术对3个Duchenne型肌营养不良症(DMD)家系中的患者进行dystrophin基因内9个外显子缺失检测,在2个家系中检测到外显子45、48、51缺失,同时运用PCR技术扩增位于dystrophin基因内内含子短串联重复序列,对非缺失型DMD家系进行了产前诊断,胎儿为正常女性.dystrophin基因外显子缺失检测方法快速、敏感、准确,可在临床推广中应用;短串联重复序列(STR)多态性分析方法可用于DMD家系的产前基因诊断和携带者检出.Deletion analysis of the patients from 3 Duchenne muscular dystrophy （DMD） families was performed using polymerase chain reaction of amplification with 9 dystrophin exons; The deletion of three exons （45,48, 51 ） was found in 2 patients. Allelic fragment length polymorphism analysis was made using primers of intragenic short tandem repeat（str） sequences. PCR amplification represented a relatively rapid, sensitive and accurate method for detecting gene deletion of DMD cases in clinical diagnosis. The method of linkage analysis of STR sequence polymorphism can be used in prenatal diagnosis and carrier detection in the DMD families.

关 键 词：DMD 基因诊断 产前诊断 

分 类 号：R596.2[医药卫生—内科学]