肌营养不良症中的肌营养不良蛋白检测：印度的经验。

Dystrophin assay in muscular dystrophies: an Indian experience.

作者信息

Jain S, Sarkar C, Dinda A K, Maheshwari M C

机构信息

Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Natl Med J India. 1993 Nov-Dec;6(6):259-62.

PMID:7950930

Abstract

BACKGROUND

Dystrophin, a protein situated on the plasma membrane of skeletal muscle has been found to be abnormal in quality and quantity in patients with muscular dystrophies and may be useful in distinguishing between the different types. Experience with the technique has been limited to western countries.

METHODS

We used dystrophin staining with monoclonal NCL-DYS (rod domain) antidystrophin antibody using the avidin-biotin conjugate immunoperoxidase technique in 16 out of 20 patients with various types of muscular dystrophies at a large tertiary care medical centre in India.

RESULTS

The technique was unsuccessful in 4 cases. In the others the dystrophin staining pattern correlated well with the clinical diagnosis in 11 out of 16 patients. In the other 5 patients dystrophin assay helped to differentiate between Duchenne muscular dystrophy and the Becker muscular dystrophy in 2 patients suspected to have limb-girdle muscular dystrophy, it differentiated Duchenne muscular dystrophy from the Emery-Dreifuss muscular dystrophy and detected a manifest female carrier with Duchenne's dystrophy.

CONCLUSION

Dystrophin staining may be useful in the differential diagnosis of patients with muscular dystrophies in India.

摘要

背景

肌营养不良蛋白是一种位于骨骼肌细胞膜上的蛋白质，已发现其在肌营养不良患者中的质量和数量存在异常，可能有助于区分不同类型。该技术的应用经验仅限于西方国家。

方法

在印度一家大型三级医疗中心，我们对20例各种类型肌营养不良患者中的16例，使用抗肌营养不良蛋白单克隆NCL-DYS（杆状结构域）抗体，采用抗生物素蛋白-生物素共轭免疫过氧化物酶技术进行肌营养不良蛋白染色。

结果

该技术在4例中未成功。在其他病例中，16例患者中有11例的肌营养不良蛋白染色模式与临床诊断高度相关。在另外5例患者中，肌营养不良蛋白检测有助于区分杜兴肌营养不良症和贝克肌营养不良症；在2例疑似肢带型肌营养不良症的患者中，它区分了杜兴肌营养不良症和埃默里-德赖富斯肌营养不良症，并检测出一名杜兴肌营养不良症的显性女性携带者。