肌营养不良蛋白在假肥大肌营养不良症肌组织中的表达研究  

A study of dystrophin expressions in muscle tissues of patients with Duchenne Becker muscular dystrophy

作　　者：王伟文[1,2] 吴保仁[1,2] 颜真 谭庆荣[1,2] 欧阳尧 许燕[1,2] 

机构地区：[1]成都军区总医院神经内科 [2]第四军医大学西京医院神经内科

出　　处：《中华神经科杂志》1998年第1期34-36,共3页Chinese Journal of Neurology

摘　　要：目的检测假肥大肌营养不良症肌组织中肌营养不良蛋白（ｄｙｓｔｒｏｐｈｉｎ）的表达。方法用针对ｄｙｓｔｒｏｐｈｉｎ棒状区第１５～１８重复区域的多克隆抗血清Ａｎｔｉ５～７，对２２例Ｄｕｃｈｅｎｎｅ型（ＤＭＤ）和４例Ｂｅｃｋｅｒ型肌营养不良症（ＢＭＤ）患者及１１例无神经肌肉疾病的急诊外伤患者（作为对照）的肌组织进行免疫组化分析。结果在对照组肌细胞中ｄｙｓｔｒｏｐｈｉｎ存在着可达检测水平的表达，并特异地定位于肌细胞膜上。１９例ＤＭＤ没有可达检测水平的ｄｙｓｔｒｏｐｈｉｎ表达，３例ＤＭＤ存在着ｄｙｓｔｒｏｐｈｉｎ表达。４例ＢＭＤ肌细胞膜上则呈现出斑片状、不连续ｄｙｓｔｒｏｐｈｉｎ弱阳性表达。结论ｄｙｓ－ｔｒｏｐｈｉｎ的缺乏是造成ＤＭＤ／ＢＭＤ表型的基本生化因素，此方法为临床上对ＤＭＤ／ＢＭＤ患者作出确诊提供了直接的特异生化测试指标。Objective To detect dystrophin expressions in muscle tissues of the patients with Duchenne Becker muscular dystrophy. Method The polycolonal antibody anti 5～7 against the repeat domain of dystrophin was used to analyze immunohistochemically the muscle tissues from normal individuals and the 26 patients who had previously received a diagnosis of severe Duchenne′s muscular dystrophy or mild Becker′s dystrophy. Results The muscle of the normal individuals contained detectable dystrophin and it was localized to the sarcolemma of fibers. 19 DMD patients had no detectable levels of dystropin, and 3 DMD patients had detectable levels of dystrophin. Dystrophin immunostaining from 4 BMD patients invariably consisted of a patchy or discontinuous staining pattern around most fibers. Conclusion The underlying biochemical factors responsible for Duchenne and Becker muscular dystrophies were abnormalities of dystrophin. Immunohistochemical analysis could be a direct, specific biochemical determination for the diagnosis of DMD/BMD.

关 键 词：Duchenne/Becker肌营养不良 肌营养不良蛋白 免疫组织化学 

分 类 号：R746.2[医药卫生—神经病学与精神病学]