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免疫组织化学dystrophin染色诊断Duchenne型肌营养不良症的研究
引用本文:刘鹏,沈定国.免疫组织化学dystrophin染色诊断Duchenne型肌营养不良症的研究[J].中华神经医学杂志,2008,7(5).
作者姓名:刘鹏  沈定国
作者单位:解放军总医院神经内科,北京,100853
摘    要:目的 探讨Duchenne型肌营养不良症(DMD)肌萎缩蛋白(dystrophin)表达规律和临床意义.方法 收集我院7例DMD患者作为试验组,7例非DMD患者为对照组.使用抗dystrophin杆状结构域单抗、免疫组织化学染色,观察肌膜dystrophin表达.结果 7例DMD患者肌细胞膜dystrophin阴性,7例非DMD患者dystrophin染色阳性.结论 证实DMD患者肌细胞膜dystrophin表达阴性,揭示dystrophin缺失是其发病机制,可以作为确诊DMD手段,对临床诊断DMD有实际意义.

关 键 词:Duchenne型肌营养不良症  免疫组织化学

Diagnosis of Duchenne muscular dystrophy through dystrophin expression detection by immunohistochemistry
LIU Peng,SHEN Ding-guo.Diagnosis of Duchenne muscular dystrophy through dystrophin expression detection by immunohistochemistry[J].Chinese Journal of Neuromedicine,2008,7(5).
Authors:LIU Peng  SHEN Ding-guo
Abstract:Objective To study dystrophin expression in Duchenne muscular dystrophy (DMD) and non-DMD patients. Methods With immunohistochemistry method, using monoclonal antibody of dystrophin, expression of dystrophin was analyzed in 7 DMD patients (experimental group)and 7 non-DMD patients (control group). Results In 7 non-DMD patients, uniform and continuous dystrophin expression was found along the sarolemma, while not in 7 DMD patients. Conclusions Dystrophin expression in myocyte membrane is negative in DMD patients, which indicates that dystrophin loss may be involved in the pathogenesis of DMD. It can be used as a "gold standard" in diagnosing DMD.
Keywords:Dystrophin
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