假肥大型肌营养不良症家系的基因检测与产前诊断  

Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy

作　　者：王皖骏[1] 朱海燕[1] 朱瑞芳[1] 杨滢[1] 朱湘玉[1] 段红蕾[1] 张颖[1] 吴星[1] 

机构地区：[1]南京大学医学院附属鼓楼医院妇产科遗传室,210008

出　　处：《中华医学遗传学杂志》2013年第1期45-48,共4页Chinese Journal of Medical Genetics

基　　金：江苏省人事厅“六大人才高峰”资助项目（2008-D30）

摘　　要：目的分析假肥大型肌营养不良症（DuchenneandBeckermusculardystrophy，DMD／BMD）家系的致病突变，对胎儿进行产前诊断，并确定家系中的女性成员是否为突变携带者。方法收集43个DMD／BMD家系，用多重PCR方法分析DMD基因缺失热点区的18个外显子；用多重连接依赖性探针扩增（multiplexligation-dependentprobeamplification，MLPA）方法对43例患者及32个家系中的36位女性进行DMD基因全部79个外显子的定量检测，为其中27个家系提供产前诊断。结果用多重PCR共检测到26例缺失突变。采用MLPA方法，除多重PCR检测到的突变外，还检测到3例缺失和6例重复突变，突变范围明确。用MLPA检测的36例女性中，32例为患儿母亲，共发现16例突变携带者，另有2名女性亲属也被确诊为携带者。10名女性排除了携带者的可能性，8例不能确定。经产前诊断，18例男性胎儿中3例为患者，9例女性胎儿中1例为携带者。结论MLPA方法可全面检测DMD基因缺失及重复突变，同时明确女性携带者，从而为产前诊断提供准确信息。Objective To detect potential mutations for probands from families affected with Duchenne/Becker muscular dystrophy （DMD/BMD）, and to carry out prenatal diagnosis through identification of female carriers. Methods A total of 43 DMD/BMD families were recruited. Multiplex PCR was used to analyze 18 exons within hotspots for DMD gene deletions. Multiplex ligation-dependent probe amplification （MLPA） was used to detect potential deletions and duplications of DMD gene for 43 patients and 36 females from 32 families. Prenatal diagnosis was performed for 27 families. Results Deletional mutations were detected in 26 patients with multiplex PCR. In addition, MLPA has detected 3 deletions and 6 duplicational mutations, and the ranges of mutations were all determined. Among 36 female members, 18 were determined as carriers of deletional mutations, 10 were excluded as mutation carriers. The status of remaining 8 could not be determined. For prenatal diagnosis, 3 out of 18 male fetuses were diagnosed as patients and 1 female fetus was identified as carrier. Conclusion MLPA is an accurate and reliable method for detecting deletional/duplicational mutation of DMD gene as well as for prenatal diagnosis and detection of female carriers.

关 键 词：DMD基因 多重聚合酶链反应 多重连接依赖性探针扩增 产前诊断 

分 类 号：R440[医药卫生—诊断学]