笼统地讲,Ⅰ型Ehlers-Danlos综合征(EDS)是一种结缔组织疾病。主要表现为皮肤柔软、伸展过度及关节移动过度。根据临床、遗传及生化标准已确定了十几种类型的EDS,己识别出数种罕见型EDS的分子基础。然而,引起Ⅰ型EDS的基因缺陷仍未确定。但以前的观察资料提示该综合征可能由Ⅰ型胶原(COL1A1和COL1A2)或Ⅲ型胶原(COL3A1)基因突变引起。特别是该综合征以常染色体显性方式遗传,且受累最 Broadly speaking, type I Ehlers-Danlos syndrome (EDS) is a connective tissue disease. Mainly for the skin soft, over-stretched and excessive joint movement. More than a dozen types of EDS have been identified based on clinical, genetic and biochemical criteria and the molecular basis of several rare EDS has been identified. However, genetic defects that cause type I EDS remain undetermined. However, previous observations suggest that the syndrome may be caused by type I collagen (COL1A1 and COL1A2) or type III collagen (COL3A1) gene mutations. In particular, the syndrome is autosomal dominant, and most affected