Chaminade F, Stanescu V, Stanescu R, Maroteaux P
Eur J Pediatr. 1979 Aug;131(4):237-45. doi: 10.1007/BF00444344.
Baboon and human articular and growth cartilage was extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8M urea pH 6.8 the proteins were separated from proteoglycans by ion-exchange chromatography. The concentrated and reduced protein fractions was analyzed by SDS-PAGE. Bands corresponding to collagen and to 6 major non-collegenous proteins were found. Two of the latter were identified with the link-proteins. By using small columns and microconcentration procedures, a gel-electrophoretic analysis of link-proteins extracted from small pieces of cartilage was performed and ten cases of osteochondrodysplasias were studied. No abnormalities were detected in the following syndromes: achondroplasia, diastrophic dwarfism, thanatophoric dwarfism, Jeune disease, spondyloepiphyseal dysplasia congenita, Kozlowski syndrome, osteogenesis imperfecta, polyepiphyseal dysplasia with diabetes mellitus.
在存在蛋白水解抑制剂的情况下,用4M氯化胍提取狒狒和人类的关节软骨及生长软骨。在pH 6.8的8M尿素中透析后,通过离子交换色谱法将蛋白质与蛋白聚糖分离。对浓缩和还原后的蛋白质组分进行SDS-PAGE分析。发现了与胶原蛋白和6种主要非胶原蛋白相对应的条带。其中两种后者被鉴定为连接蛋白。通过使用小柱和微量浓缩程序,对从小片软骨中提取的连接蛋白进行了凝胶电泳分析,并研究了10例骨软骨发育不良病例。在以下综合征中未检测到异常:软骨发育不全、畸形性侏儒症、致死性侏儒症、耶尔氏病、先天性脊椎骨骺发育不良、科兹洛夫斯基综合征、成骨不全、伴有糖尿病的多骨骺发育不良。