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目的利用免疫荧光技术对Duchenne型肌营养不良症(DMD),Becker型肌营养不良症(BMD)及DMD携带者的肌纤维膜上的抗肌萎缩蛋白进行检测,为肌营养不良症的分型诊断提供简便的方法。方法收集26例(1～11岁)DMD/BMD患儿和1例DMD携带者,利用免疫荧光检测技术,选择抗肌萎缩蛋白中央杆状区(dys-R)、抗肌萎缩蛋白C区(dys-C)和抗肌萎缩蛋白N区(dys-N)不同结构域的3种抗体,分别对20例DMD、3例BMD,具有家族遗传史携带者1例和正常对照者5例骨骼肌肌细胞膜上抗肌萎缩蛋白进行检测。结果抗肌萎缩蛋白在正常肌纤维膜3种抗体上呈完整的环状阳性表达,在20例DMD患儿的肌纤维膜上呈阴性表达,其中3例DMD患儿在单个肌纤维或在一小簇肌纤维呈阳性反应。在3例BMD患儿的肌纤维膜上呈连续的或断续的弱表达、在DMD携带者的肌纤维膜上呈明显的降低。结论利用3种末端抗体通过免疫荧光技术检测抗肌萎缩蛋白的表达,可用于DMD、BMD及DMD携带者的临床分型诊断。
Objective To detect the dystrophin subtypes in Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and DMD carriers by immunofluorescence. Provide a simple way. Methods Twenty-six DMD / BMD children (1-11 years old) and 1 DMD carrier were collected. Immunofluorescence staining was used to select the dystrophin dysplasia, dystrophin dysplasia region, dys-C) and dys-N domains were detected in 20 cases of DMD, 3 cases of BMD, 1 case of family history of carrier and 5 cases of normal control Muscle cell membrane dystrophin was detected. Results The dystrophin showed a complete positive expression on the three kinds of normal myofibers, negatively expressed on the myofibrillar membrane of 20 DMD children. Among them, 3 cases of DMD were found in a single muscle fiber or in a small cluster of myofibers Positive reaction. Continuous or intermittent weakly expressed muscle fibers in 3 BMD children showed a marked decrease in the muscle fibers of DMD carriers. Conclusion The detection of dystrophin expression by immunofluorescence with three kinds of terminal antibodies can be used to diagnose DMD, BMD and DMD carriers.