Cohn D H, Byers P H
Clin Perinatol. 1990 Dec;17(4):793-809.
The defects in type I collagen structure or synthesis that produce all four types of osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) type VII and the defects in type III collagen structure in EDS type IV can be detected by analysis of collagens produced by fibroblastic cells cultured from affected individuals. Quantitative defects in synthesis of type I collagen are seen in OI type I and qualitative defects of type I collagen characterize OI type II, OI type III, and OI type IV and EDS type VII. EDS type IV results from qualitative type III collagen defects. All of the disorders are inherited typically in an autosomal dominant fashion so that recurrence among offspring of normal parents usually results from germline mosaicism for the mutation in one parent. Analysis of type I and type III collagen synthesized by cultured chorionic villus cells is used for prenatal diagnosis of these disorders.
导致所有四种类型成骨不全症（OI）、VII型埃勒斯-当洛综合征（EDS）的I型胶原蛋白结构或合成缺陷，以及IV型EDS的III型胶原蛋白结构缺陷，可通过分析从受影响个体培养的成纤维细胞产生的胶原蛋白来检测。I型胶原蛋白合成的定量缺陷见于I型OI，I型胶原蛋白的定性缺陷是II型OI、III型OI、IV型OI和VII型EDS的特征。IV型EDS是由III型胶原蛋白的定性缺陷引起的。所有这些疾病通常以常染色体显性方式遗传，因此正常父母的后代复发通常是由于一方父母的生殖系嵌合突变。通过分析培养的绒毛膜绒毛细胞合成的I型和III型胶原蛋白，可对这些疾病进行产前诊断。
