基因产物检测诊断肌聚糖病五例报告

The use of sarcoglycan antibodies in diagnostic tests for sarcoglycanopathies

目的 研究肢带型肌营养不良 (LGMD)中肌聚糖病的诊断方法。方法 在dystrophin免疫染色分型诊断基础上 ,在国内首次用α、β、γ和δ 肌聚糖的单克隆抗体对 2 5例LGMD患者肌肉标本行免疫组化和蛋白质印迹分析。结果 发现单纯γ 肌聚糖缺乏 1例 ,单纯δ 肌聚糖缺乏 2例 ,三种肌聚糖同时缺乏和四种肌聚糖同时缺乏各 1例。结论 初步诊断 5例肌聚糖病 ;各型LGMD临床表现相似 ,用四种肌聚糖的抗体对肌肉组织进行免疫组化和蛋白质印迹分析是诊断肌聚糖病的首选方法。

Objective To study the characteristics of sarcoglycanopathies and their diagnostic methods.Methods On basis of dystrophin immunostaining,the muscle specimens of 25 LGMD with normal dystrophin were investigated using all four sarcoglycan (α,β,γ,δ sarcoglycan) antibodies by immunohistochemistry and Western blotting. Results 5 specimens showed a deficiency: one case in γ SG,two in δ SG,one in three SG,and one in all four SG.Conclusion 5 patients were diagnosed as 'sarcoglycanopathies'. As it is difficult to distinguish the various types of LGMD based on clinical features,the immunohistochemistry and Western blotting of all four sarcoglycan antibodies may serve as an important diagnostic tool for sarcoglycanopathies.