肌营养不良症致病基因编码产物检测的初步研究

A preliminary study of gene products encoded by disease genes of muscular dystrophy

目的对导致肌营养不良症的基因编码产物进行检测，从分子水平为临床诊断和分型提供依据。方法应用蛋白质印迹技术对临床诊断为肌营养不良症的患者进行抗肌营养不良蛋白、αｓａｒｃｏｇｌｙｃａｎ和γｓａｒｃｏｇｌｙｃａｎ的研究。结果首次在中国人群中检测出由于α和γｓａｒｃｏｇｌｙｃａｎ缺陷而致的常染色体连锁遗传性肢带型肌营养不良症２例，检测出由于抗肌营养不良蛋白缺陷而致的迪谢内肌营养不良症２例。结论肌营养不良症在临床症状、遗传模式等方面具有极不均一的特点。直接检测致病基因的编码产物不仅为临床诊断和分类提供了依据，也为进一步研究致病基因。

Objective To provide a useful tool based on molecular level for clinical diagnosis and classification by detecting gene products encoded by disease genes of muscular dystrophy. Method A few cases clinically diagnosed as muscular dystrophy were analyzed by western blot. Four antibodies, which individually against N terminal of dystrophin, C terminal of dystrophin, α sarcoglycan and γ sarcoglycan were used. Results Two sporadic patients with autosomal recessive muscular dystrophy were confirmed to correlated with deficiency of α sarcoglycan and γ sarcoglycan separately. They might be the first time report in Chinese population. Two patients with Duchenne muscular dystrophy correlated with deficiency of dystrophin were detected. Conclusion The muscular dystrophy were highly heterogeneous in clinical manifestation and in inheritance pattern. It might be important to detect gene products, which gave not only a useful tool in clinical diagnosis and classification, but also a possibility for further research of molecular pathology in this disease.