多重聚合酶链反应检测DMD基因的初步分析  

Preliminary analysis of detection of DMD gene by multiplex PCR

作　　者：樊绮诗[1] 崔杰峰[1] 夏玉卿[2] 黄陶[1] 孟渊 潘瑞福[3] 李建平[3] 

机构地区：[1]上海第二医科大学附属瑞金医院,200025 [2]北京中国中医研究院望京医院内一科,101102 [3]上海第二医科大学附属仁济医院神经内科

出　　处：《上海医学》2000年第6期336-338,共3页Shanghai Medical Journal

摘　　要：目的　在更广泛的区域内寻找DMD基因的缺失范围。方法　用 2 5对引物以多重PCR技术对 17例DMD或BMD患者进行DMD基因检测。结果　 8例患者 (47.1% )被检出DMD基因片段性缺失 ,其中 7例患者的缺失部位集中在 44～ 5 1号外显子 ,另 1例患者的缺失部位处于DMD基因的 5′端。结论　我国DMD或BMD患者DMD基因的缺失热点主要位于该基因的中央部位 。Objective To search for the extent of DMD gene deletion Chinese patients with DMD and BMD. Method DMD gene was detected in 17 DMD and BMD patients by using multiplex PCR with 25 pairs of primers. Results Fragmentary deletion of DMD gene was detected in eight patients (47.1%) and in seven of them the deletion was affected in exons 44～51. Another deletion covered a region from brain specific promoter to exon 17 was found in one patient. Conclusion Hot spot of the DMD gene deletion in Chinese patients was mainly located in the central domain, also located in 5' end of the gene.(Shanghai Med J, 2000,23∶336 338)

关 键 词：多重PCR DMD/BMD 基因缺失 肌营养不良症 

分 类 号：R446.61[医药卫生—诊断学]