MLPA技术对Duchenne肌营养不良症患者基因外显子缺失和重复的诊断价值

Deletion and Duplication in the DMD Gene Detected by MLPA

目的使用多重连接依赖探针扩增技术对Duchenne肌营养不良症和Becker肌营养不良症家系成员的DMD基因进行外显子缺失和重复检测,探讨多重连接依赖探针扩增技术对Duchenne肌营养不良症患者和Becker肌营养不良症患者的诊断价值。方法应用多重连接依赖探针扩增技术检测1个Duchenne肌营养不良症家系成员和1个Becker肌营养不良症家系成员DMD基因的全部外显子缺失和重复,对家系成员进行基因诊断。结果 Duchenne肌营养不良症家系患者是DMD基因外显子45~50缺失所致,Becker肌营养不良症家系患者是外显子3~4重复所致。两个家系中的患者致病基因携带者均得到明确诊断。结论在规范操作的条件下,多重连接依赖探针扩增技术检测的探针拷贝数可预示DMD基因的外显子缺失和重复,因此多重连接依赖探针扩增技术可作为临床对DMD基因外显子缺失和重复的首选检测方法。

Objective To detect exon deletions/duplications in the DMD gene in Duchenne and Becker muscular dystrophy pedigrees using multiplex iigation-dependent probe amplification method,and explore the usefulness of multiplex ligation-de- pendent probe amplification analysis as a method for genetic diagnostics in patients with Duchenne and Becket muscular dys- trophy. Methods Exon deletions/duplications in the DMD gene were analyzed by multiplex ligation-dependent probe ampli- fication for two pedigrees with Duchenne muscular dystrophy and Becker muscular dystrophy. Patients and carriers were di- agnosed by multiplex ligation-dependent probe amplification. Results The pedigree with Duchenne muscular dystrophy was caused by DelEx45-50 mutation,while the pedigree with Becker muscular dystrophy was caused by Dup Ex3-4 mutation. Pa- tients and carriers were diagnosed by multiplex ligation-dependent probe amplification method. Conchtsion Exon deletions/ duplications in the DMD gene can be indicated by probe copies using multiplex ligation-dependent probe amplification method under standard operating procedure. Multiplex ligation-dependent probe amplification should be considered as a rapid and ac- curate clinical method for an initial mutation analysis of DMD gene with exon deletions/duplications.