IMMUNOSTAINING OF DYSTROPHIN AND UTROPHIN IN SKELETAL-MUSCLE OF DYSTROPHINOPATHIES
IMMUNOSTAINING OF DYSTROPHIN AND UTROPHIN IN SKELETAL-MUSCLE OF DYSTROPHINOPATHIES
复制标题
DOI：
10.2169/internalmedicine.33.277
复制
发表时间：
1994-05-01
影响因子：
1.2
通讯作者：
SUGITA, H
中科院分区：
文献类型：
--
作者：
SAHASHI, K;IBI, T;SUGITA, H
采用抗肌营养不良蛋白（dystrophin）和肌营养不良蛋白（utrophin）单克隆抗体对4例Duchenne （DMD）、12例Becker muscular dystrophy （BMD）和3例DMD携带者活检骨骼肌进行免疫染色。在DMD中，除了对每种抗体显示不同染色模式的反向纤维外，其余均为肌营养不良蛋白阴性染色。在7个bmd中，在45-52外显子缺失的情况下存在微弱/斑片状染色，而在1例12-17外显子缺失的情况下，未发现与缺失位点相关的染色。此外，在2例无法检测到的缺失中，识别c端结构域末端部分的抗体显示缺失染色。在DMD中，肌营养蛋白阳性纤维与肌营养蛋白阴性纤维相对应。在骨密度中，这种关系并不一定发生在每一种纤维中。在DMD携带者中，肌营养蛋白阳性的肌营养不良蛋白阴性纤维簇突出。在肌营养不良症中，肌营养不良蛋白和肌营养不良蛋白的免疫染色是有用的，并结合肌营养不良蛋白基因分析来明确诊断。
Immunostaining of biopsied skeletal muscle of 4 Duchenne (DMD), 12 Becker muscular dystrophy (BMD) and 3 DMD carriers' was performed using monoclonal antibodies against dystrophin and utrophin. In DMD, dystrophin-negative staining was observed except for revertant fibers which showed different stain patterns for each antibody. In 7 BMDs, there was faint/patchy stain in cases of deletion between exons 45-52, while in one case there was deletion between exons 12-17 and no stain was noted relevant to the deletion site. Moreover, in 2 cases of undetectable deletion, antibodies which recognize a terminal portion of the C-terminal domain revealed the absent stain. In DMD, the utrophin-positive fibers corresponded to dystrophin-negative fibers. In BMD, this relationship did not necessarily occur in each fiber. In DMD carriers, a cluster of dystrophin-negative fibers which was positive for utrophin were prominent. In dystrophinopathy, the immunostaining of dystrophin and utrophin is useful, in combination with dystrophin gene analysis to make a definite diagnosis.