肌营养不良蛋白表达对肌营养不良症的诊断意义

目的：探讨肌营养不良蛋白在肌营养不良症患者肌组织中表达的意义。方法：运用免疫组化法对12例Duchenne型肌营养不良症（DMD）患者及5例Becker型肌营养不良症（BMD）患者的肌组织中肌营养不良蛋白的表达进行分析。并用6例非神经肌肉疾病患者的肌组织作为对照。结果：对照组6例肌组织标本中均可见肌营养不良蛋白表达，其阳性染色勾画出肌细胞的边界，胸及胞浆呈阴性。在DMD中有10例（83．33％）肌细胞膜肌营养不良蛋白不表达。BMD中3例（60）可见沿肌细胞膜分的不连续斑片状弱阳性染色。结论：肌营养不良蛋白的缺失或异常表达，是DMD／BMD型较为特异的改变。运用免疫组化法检测患者肌组织中肌营养不良蛋白的表达，可为DMD／BMD型的病理诊断提供特异指标。

Diagnotic significance on the expression of dystrophin to myodystrophy

Objective To investigate the significance on the expression of dystrophin in muscle tissue of the patients with myodystrophy.Methods Dystrophin in the muscle tissue of 12 patients with Duchenne muscular dystrophy (DMD), 5 patients with Becker muscular dystrophy (BMD) was analysed by immunohistochemistry,and compared with muscle tissue of 6 patients without neuromuscle disease.Results In the control group, the dystrophin was showed in muscle tissue sample of 6 cases,the border of the muscle cells was showed by the positive stain,the cell nuclei and cytoplasm were negative. The membrane of muscle cell didn't show dystrophin in 10 cases of 12 DMD (83.33%). The discontinuous pattern potitive stain was showed in 3 cases BMD (60%).Conclusion The absence or abnormal expression of dystrophin was the specific change for DMD/BMD.The expression of dystrophin in muscle tissue was examined by immunohistochemitry,it could be a specific index for the diagnosis of DMD/BMD.