肌营养不良蛋白在假肥大肌营养不良双生子肌组织中的表达

EXPRESSION OF DYSTROPHIN IN MUSCLE TISSSUES OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY TWINS

[目的]假肥大肌营养不良是男性最常见的X-连锁隐性遗传病,而肌营养不良蛋白(dystrophin)在DMD患者肌细胞上的表达异常是导致该病发生的最根本的病理生理机制。[方法]应用兔抗Anti5-7多克隆抗血清及免疫组化技术检测dystrophin在两对DMD孪生子肌组织中的表达。[结果]显示dystrophin在无症状的孪生子肌组织中存在着阳性表达,而在DMD患儿肌组织中则表达缺失。[结论]检测肌细胞膜上dystrophin蛋白的表达对DMD患者的诊断及预后判定有着重要的应用价值。

[Objective] Duihenne and Beaker muscular dystrophy is the most common human X-linked recessive inher ited disease The absence of dystrophin On the sarcolemma results ifiDMD, which is the essential physiopathologic mechanism, [Methods]The serum with polyelonal antibody anri 5-7and the immunohistochemical technique were used to analyze the dystrophin, expression in muscle tissues of two twins with DMD.[Resultts] Dystrophin was detectable in muscle from nodal individual of twins and absent in musele from individual of twins with DMD [Conclusions] Immunohistochemical analysis Of dystrophin in muscle tissues is a valuble technique used for diagnosis and prognosis of DMD.