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作者在日本肌营养不良病人的骨骼肌中,应用免疫化学方法,通过对50DAG、43DAG、Dystrophin和Utrophin的检测,发现了5例与Dystrophin有关的50Kd糖蛋白的缺乏。 文献中发现,北非流行的患有严重儿童常染色体显性遗传肌营养不良(SCARMD)儿童的骨骼肌中有与Dystrophin有关的50Kd糖蛋白(50DAG)缺乏。致病基因可能与13号染色体长臂相关。除此之外也有在17号染色体长臂检出了错构突变基因的报道。在50DAG缺乏的SCARMD中,其它与Dys-trophin有关的糖蛋白和Dystrophin的成份是正常的。因而检测50DAG,对于鉴别杜氏型肌营养不良(DMD)、SCARMD以及恶性肢带型肌营养不良(MLGD)是很重要的。
In the skeletal muscle of patients with muscular dystrophy in Japan, the immunochemical method was used to detect the absence of 50 kD glycoproteins associated with Dystrophin through the detection of 50DAG, 43DAG, Dystrophin and Utrophin. In the literature, there was a lack of Dystrophin-associated 50 kd glycoprotein (50 DAG) in skeletal muscle of children with severe pediatric autosomal dominant genetic dystrophy (SCARMD), a disease prevailing in North Africa. Pathogenic genes may be associated with the long arm of chromosome 13. In addition, there are also reports of missense mutations in the long arm of chromosome 17. In 50 DAG-deficient SCARMD, other Dys-trophin-related glycoproteins and Dystrophin components are normal. Therefore, the detection of 50DAG is important for the identification of Duchenne muscular dystrophy (DMD), SCARMD, and Malignant Limb Muscular Dystrophy (MLGD).