DMD/BMD基因缺失的检测及其临床分析

Detection of Duchenne/Becker Muscular Dystrophy(MDM/BMD) Gene Deletions and its Clinical Analysis

目的:了解Duchenne/Becker型肌营养不良症(DMD/BMD)致病基因缺失的分布及其与临床病情的关系。方法:应用9对引物多重聚合酶链反应(mPCR)技术对42例DMD/BMD患者进行致病基因检测。结果:21例患者(50.0%)被检出外显子缺失,缺失片段长度各异,其中16例(76.2%)累及中央缺失热区,5例(23.8%)位于5端缺失热区,尤以48号外显子缺失频率最高。结论:多重PCR技术是检测DMD/BMD致病基因缺失的有效方法,该病病情轻重可能与外显子缺失的数量和长度不呈平行关系,而是与缺失类型有关,并受到个体差异的影响。

Objective: To analysis the deletion distribution of dystrophin gene and the relationship between gene deletions and clinical symptoms in Duchenne/Becker muscular dystrophy (DMD/BMD). Methods: Forty-two patients with DMD/BMD were screened by using multiplex polymerase chain reaction (mPCR) with 9 pairs of primers. Results: The deletion of one or more exons was found in 21 patients. 16 cases (76. 2%)were detected in the central region and 5 patients (23. 8%)in the 5' extreme region, especially in exon 48(6 patients). Conclusion: Multiplex PCR is an efficient technique for detecting gene deletions. It might be possible that some correlation existed between the certain gene deletion and the degree of severity of the disease which was als0 affected by inheritance pattern. The amount and length of exon deletion may not affect the symptoms.