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导致Duchenne型肌营养不良症(DMD)基因编码的mRNA约16千碱基对,如果该信息翻译成一个蛋白质,其大小约为500千道尔顿。肌肉中已知的最大的蛋白质是nebulin(550千道尔顿)和titin(大于1000千道尔顿),两种蛋白质均存在于暗带(由肌球蛋白粗丝组成的肌节)和明带(含连到Z线的肌动蛋白细丝的肌节)的连接处。作者检查了5例DMD病人无变性的肌纤维,在某些肌节的暗带和明带连接处可见细丝紊乱,同时将之与对照组的肌肉作比较。作者还将肌活检标本制备的肌原纤维沉淀物用于电泳,应用此技术,研究了30例DMD病人(2.5个月到7岁)和25名对照
Resulting in about 16 kilobase pairs of mRNA encoded by the Duchenne muscular dystrophy (DMD) gene, about 500 kilodaltons in size if translated into a protein. The largest proteins known in muscle are nebulin (550 kilo Daltons) and titin (greater than 1000 kiloDaltons), both of which are found in dark bands (sarcomere composed of thick myosin filaments) and Band (including the actin filaments connected to the Z line) at the junction. The authors examined 5 non-degenerative muscle fibers in patients with DMD. Fibers were found to be disorganized at dark and mesolus connections in some sarcomere and compared with muscle in the control group. The authors also used myofibrillar pellets prepared from muscle biopsy specimens for electrophoresis. Using this technique, 30 DMD patients (2.5 months to 7 years old) and 25 controls