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[杜氏肌营养不良症患者及基因携带者红细胞膜蛋白颗粒的定量分析]

[The quantitative analysis of protein particles of erythrocyte membrane from Duchenne muscular dystrophy patients and the gene carriers].

作者信息

Hong Zhi-lin, Murong Shen-xing, Zhong Xiu-rong, Lin Min-ting, Cheng Wen-lie, Lin Xi, Wang Ning

机构信息

Department of Neurology, Second Affiliated Hospital, Fujian Medical University, Quanzhou, Fujian, PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):68-9.

Abstract

OBJECTIVE

To 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.

METHODS

The 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.

摘要

目的

研究杜氏肌营养不良症(DMD)患者及基因携带者红细胞膜内蛋白颗粒的变化,探讨DMD的发病机制及红细胞冷冻断裂技术的诊断价值。

方法

采用冷冻断裂技术处理固定质量的红细胞,制成复膜,在电子显微镜下观察并拍照,计数每平方微米细胞外表面(EF)和原生质表面(PF)的蛋白颗粒,进行统计学比较分析。

结果

DMD患者及DMD携带者红细胞膜EF面和PF面的蛋白颗粒计数与正常对照组相比明显减少(P<0.001)。

结论

红细胞冷冻断裂电子显微镜技术可作为诊断DMD患者的辅助检查方法及检测DMD携带者的方法,本研究资料为DMD系统性膜缺陷理论提供了可靠依据。

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