多重PCR法检测苏南地区Dystrophin基因缺失

Detection of Deletions of Dystrophin Gene in South Jiangsu Province Using Multiplex PCR

目的研究应用多重PCR法检测Dystrophin基因缺失．并了解苏南地区Dys仃ophin基因缺失的特点。方法应用多重PCR法检测29例假肥大型肌营养不良症患者基因缺失．分析苏南地区Dystrophin基因缺失的分布。结果29例患者共检出15例存在Dystrophin基因缺失．苏南地区Dystrophin基因缺失检出率为51．72％；48号为最常见缺失外显子。结论多重PCR法检测假肥大型肌营养不良症患者基因缺失可靠，可用于临床检测；苏南地区Dystrophir谌因缺失分布特点与国内其他地区差别不大。‘

Objective To detect large deletions of Dystrophin gene using multiplex PCR,and to detect the distribution characteristics of Dystrophin gene deletions in the South Jiangsu Province.Methods We detected 29 DMD/BMD cases using multiplex PCR from genomic DNA and analyzed the distribution characteristics of gene deletions. Results 15 cases in 29 are detected deletion,the deletion frequency is 51.72%;Exon 48 is the most common deletion.Conclusion Multiplex PCR could be used for clinical testing.The distribution characteristics of Dystrophin gene deletions in the South Jiangsu Province is not different from other regions of China.