【摘要】 目的　研究 Duchenne型肌营养不良症 (Duchenne muscular dystrophy,DMD)患者及其基因携带者红细胞膜蛋白颗粒的变化情况 ,探讨 DMD的发病机理以及红细胞冷冻断裂技术的诊断价值。方法　采用冷冻断裂法把固定好的红细胞块制成复型膜样品 ,在电镜下观察拍照 ,计算其红细胞膜劈裂面中面向细胞质的一面 (extracellular face,EF)和红细胞膜劈裂面中面向细胞外隙的一面 (protoplasmic face,PF)单位面积内蛋白颗粒数 ,并进行统计学对比分析。结果　 DMD患者及 DMD携带者红细胞膜 EF面和PF面蛋白颗粒数与正常对照组相比均明显减少 (P<0 .0 0 1)。结论　红细胞冷冻断裂电镜技术可作为诊断DMD的辅助检查手段 ,也可作为检测 DMD基因携带者的一种方法。本研究结果为 DMD的全面性膜缺陷理论提供了可靠的证据。更多还原

【Abstract】 ObjectiveTo study the changes of the intramembrane protein particles of erythrocyte from Duchenne muscular dystrophy (DMD) patients and the gene carriers and to explore the pathogenesis of DMD and the diagnostic value of erythrocyte freeze-fracture technology. MethodsThe fixed erythrocyte mass was treated to form replica membrane by means of the freeze-fracture technology. Then the replica membrane was observed and a picture was taken under electron microscope. The protein particles of extracellular face(EF) and protoplasmic face(PF) per square were counted. The statistical comparative analysis was performed. Results The protein particle counts of EF face and PF face of erythrocyte membrane from DMD patients and DMD carriers decreased obviously in comparison with the normal control group ( P <0.001). Conclusion The erythrocyte freeze-fracture electron microscopic technology may serve as a method for accessory examination of diagnosing DMD patients and a method for detecting DMD carriers. This investigation material supplies reliable evidence for the theory of the systemic membrane defect of DMD.更多还原