Duchenne肌营养不良症患者及携带者的基因缺失和重复突变检测  

Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification

作　　者：申本昌 张成[3] 孙筱放 张慧敏 李少英 

机构地区：[1]医学院基础学院医学遗传学与细胞生物学教研室,广州510182 [2]附属第三医院妇科 [3]中山大学附属第一医院神经科、中山大学干细胞与组织工程研究中心

出　　处：《中华医学遗传学杂志》2007年第4期460-463,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30370510）;广东省自然科学基金博士启动项目（5300783及04300353）;卫生部临床重点项目基金（2001321）;高等学校博士学科点专硕科研基金（200330558058）;中国博士后科学基金（2005037172）

摘　　要：目的利用多重连接依赖探针PCR扩增技术检测Duchenne肌营养不良症（Duchenne muscular dystrophy，DMD）患者及其可能的女性携带者的dystrophin基因的缺失、重复突变。方法利用多重连接依赖探针PCR扩增对32例DMD患者及其27个可能的女性携带者的dystrophin基因缺失、重复进行检测。结果32个先证者中，共检测出了24例DMI）患者具有一个或多个外显子的缺失，l例DMD患者具有重复突变，l例患者为第19外显子的无义突变（R768X），6例没有检测出缺失、重复突变的先证者可能是点突变所致。17个先证者的18位女性亲属具有和先证者相同的缺失、重复突变。结论多重连接依赖探针PCR扩增技术可用于检测DMD基因的缺失、重复突变，可以检测DMD基因女性携带者的基因杂合情况，在检测DMD基因缺失和重复方面，具有一定的应用价值。Objective To detect genomic deletion and duplication mutations in the dystrophin gene of the Duchenne muscular dystrophy （DMD） patients and their potential female carriers. Methods Genomic deletions and duplications of the DMD gene in 32 affected males and 27 potential female carriers were screened by mutiplex hgation-dependent probe amplification （MLPA）. Results Of the 32 investigated affected males, 24 were detected to have deletions of one or more exons of the DMD gene, 1 patient had a duplication from exon 5 to 55, 1 patient had a nonsense point mutation （R768X） in exon 19, the other 6 affected males were predicted to have possible disease-causing point mutations. MLPA analysis showed a DMD deletion or duplication in 18 female relatives, and the female carriers had the same deletion or duplication as their prohands, respectively. Conclsion MLPA analysis is proven to be an etticient tool for identification of both affected males and female carriers of DMD rearrangements in cases in which the diseasecausing mutation in the affected male was not known. It could provide useful information for the genetic counseling of the family involved.

关 键 词：DUCHENNE肌营养不良症 缺失 重复 多重连接依赖探针PER扩增 

分 类 号：R686[医药卫生—骨科学]