利用双向电泳技术获得遗传病患者的成纤维细胞系和毛根的高分辨蛋白质图形。病种包括Duchenne氏肌营养不良,Marie运动失调,Friedreich运动失调,Lesch-Nyhan综合征以及枫糖尿病;还有染色体畸变疾病的患者,包括13、18、21三体综合征。患者和对照组的细胞系大多由上臂的 High-resolution protein profiles of fibroblasts and hairy roots of patients with genetic disease were obtained using two-dimensional electrophoresis. Diseases include Duchenne’s muscular dystrophy, Marie’s dyskinesia, Friedreich’s dyskinesia, Lesch-Nyhan syndrome, and maple diabetes mellitus; as well as patients with chromosomal aberrations, including Trisomy 13,18,21. Most of the patient and control cell lines are composed of upper arms