Valli M, Tenni R, Cetta G
Department of Biochemistry, University of Pavia, Italy.
Matrix. 1990 Jul;10(3):200-5. doi: 10.1016/s0934-8832(11)80169-1.
This report describes the biochemical investigations on six patients affected by a moderate form of Osteogenesis Imperfecta (type IV according to the Sillence classification). Biochemical characterization of type I collagen produced by skin fibroblasts showed considerable heterogeneity: in three patients out of six, collagen appeared normal; while in the three others a structural defect in the protein was present. In these probands the mutations were localized in different regions of the triple helix domain (corresponding to peptides alpha 1(I)CB6 and alpha 1(I)CB7). In two probands showing the defect in alpha 1(I)CB7, a decrease of the thermal stability of the protein was present.
本报告描述了对6名患有中度成骨不全症（根据Sillence分类为IV型）患者的生化研究。皮肤成纤维细胞产生的I型胶原蛋白的生化特征显示出相当大的异质性：6名患者中有3名，胶原蛋白看起来正常；而在另外3名患者中，蛋白质存在结构缺陷。在这些先证者中，突变位于三螺旋结构域的不同区域（对应于肽α1(I)CB6和α1(I)CB7）。在两名显示α1(I)CB7缺陷的先证者中，蛋白质的热稳定性降低。
