Abstract: Objective To assess the value of multiplex ligation dependent probe amplification (MLPA) for the genetic and prenatal diagnosis of Duchenne/Becker muscular dystrophy (DMD/BMD). Methods Twenty two patients clinically diagnosed with DMD/BMD were recruited.Copy number variations (including deletion or duplication mutations) of the 79 exons of the DMD gene were detected by MLPA.For cases requesting prenatal diagnosis,short tandem repeat (STR) capillary e1ectrophoresis,linkage analysis and MLPA were applied to determine fetal DMD gene. Results Among the 22 patients,deletions and duplications encompassing two or more exons were identified in 15 and 4 cases with MLPA,respectively.Three patients had no copy number variations.Of the 14 mothers with MLPA positive sons,9 were found to carry either deletions or duplications.Prenata1 diagnosis had identified 3 female carrier fetuses,3 male normal fetuses and 1 female normal fetal in the 7 cases examined,which was in conformity with linkage analysis. Conclusion The data demonstrated that MLPA is a accurate,rapid and reliable method for detecting copy number variations (deletions or duplications) of the DMD gene.

Key words: multiplex ligation-dependent probe, Duchenne/Becker muscular dystrophy, genetic diagnosis, prenatal diagnosis

摘要： 目的 评价多重连接依赖式探针扩增 (Multiplex ligation-dependent probe amplification,MLPA) 技术对假肥大型肌营养不良症(DMD)患者进行基因诊断和产前诊断的应用价值。方法 应用MLPA技术对具有典型表型的22例患者进行DMD基因79个外显子拷贝数变异(缺失/重复突变)检测,同时对部分家系中孕妇携带者进行产前诊断,STR毛细管电泳连锁分析方法进行辅助诊断及验证。结果 22例患者中15例为缺失突变,4例为重复突变,3例未见拷贝数变异。14例MLPA检测结果为阳性的患者母亲中有9例为携带者。产前诊断的7例胎儿中,3例为女性胎儿携带者,3例男性正常胎儿和1例女性正常胎儿。结论 MLPA技术能准确、快速、可靠地检测DMD基因拷贝数变异(缺失或重复突变)。

关键词: 多重连接依赖式探针扩增技术, 假肥大型肌营养不良症, 基因诊断, 产前诊断