多重聚合酶链反应检测DMD/BMD患者的基因缺失  

Detection of Duchenne/Becker muscular dystrophy gene deletions with multiplex-PCR.

作　　者：周永安[1] 席卫平[1] 夏丽[1] 武坚锐[1] 郭跃贞[1] 周岩[1] 李玉军[1] 孙夏瑜[1] 

机构地区：[1]山西省妇幼保健院遗传中心,太原030013

出　　处：《中国优生与遗传杂志》2009年第9期18-19,共2页Chinese Journal of Birth Health & Heredity

基　　金：山西省科技攻关项目(20080311065);山西省卫生厅资助项目(No.200705)

摘　　要：目的了解Duchenne型肌营养不良(DMD)/Becker型肌营养不良(BMD)患者基因缺失的分布规律,并探索检测技术。方法应用28对引物多重聚合酶链反应(mPCR)分4组对20例DMD/BMD患者进行Dysophin基因缺失检测分析。结果12例(60%)存在外显子缺失,8例(40%)未检测到缺失;8例缺失片段集中于44～52号外显子,4例集中于5′端外显子。结论基因缺失为主要突变类型,缺失片段主要分布于44～52、2～20号外显子两个缺失热区。Objective ： To search for the extent of DMD gene deletion Chinese patients with DMD and BMD. To analyses the deletion distirbution of Dystrophin gene in Duchenne/Becker muscular dystrophy （DMD/BMD） patients. To analyses the experimental method. Methods： 20 patients with DMD/BMD people were screened with multiplex -PCR （mPCR） using 28 pairs of primers. Results： Different exon deletions were detected in 12 cases （60%）, 8 eases （40%） were not detected. The deletions of 12 cases were located in exons 44 - 52, 4 in 5＇end of the gene. Conclusion ： Gene deletion is mainly distirbuted in two ＂hot spot＂ around the central domain, also located in 5＇end of the gene.

关 键 词：多重PCR DMD/BMD 基因缺失 

分 类 号：R450[医药卫生—治疗学] R746.2[医药卫生—临床医学]