COL2A1基因突变致先天性脊柱骨骺发育不良的软骨组织超微结构观察  

Ultrastructural study on spondyloepiphyseal dysplasia congenita cartilage resulted from COL2A1 gene mutation

作　　者：崔英霞[1] 夏欣一[1] 杨滨[1] 卢洪涌[1] 王浩洋[1] 姚兵[1] 李晓军[1] 黄宇烽[1] 

机构地区：[1]南京大学医学院临床学院(南京军区南京总医院)解放军临床检验医学研究所,江苏南京210002

出　　处：《医学研究生学报》2009年第4期376-379,共4页Journal of Medical Postgraduates

基　　金：江苏省135工程重点学科基金资助项目(批准号:[2001]34);南京军区南京总医院科研基金资助项目(批准号:2006077)

摘　　要：目的:先天性脊柱骨骺发育不良(SEDC)是常染色体显性遗传疾病,主要累及患者脊柱和长骨骨骺,发病率约为1∶100000。研究编码Ⅱ型胶原α1链的COL2A1基因G504S突变致SEDC的软骨组织超微结构改变。方法:对SEDC引产胎儿和正常对照的软骨组织分别用苏木精-伊红(H-E)染色和甲苯胺蓝染色,在光镜下观察其形态学改变,并重点应用透射电镜和扫描电镜观察软骨组织的超微结构变化。结果:在光镜下未观察到引产胎儿软骨组织明显变化,而在透射电镜下观察到引产胎儿软骨细胞粗面内质网异常膨大,形成包涵体结构,细胞外基质胶原纤维数量减少。扫描电镜下发现,引产胎儿软骨胶原纤维为不规则"草莓样"结构。结论:COL2A1基因G504S突变导致软骨细胞和胶原纤维超微结构的改变,可能是SEDC发生的基础。Objective： Spondyloepiphyseal dysplasia congenita（SEDC） is an autosomal dominant skeletal dysplasia characterized by short stature,abnormal epiphyses and flattened vertebral bodies,with an incidence at birth of 1： 100 000 approximately.The authors aimed to study the ultrastructural changes of SEDC cartilage resulted from COL2A1 gene mutation.Methods：HE and toluidine blue staining were performed to investigate the cartilage histological changes of the SEDC fetus and the control at the microscopic level,focusing on the ultrastructural changes of the SEDC cartilage under the transmission electron microscope and scanning electron microscope.Results： No obvious changes were found at the microscopic level.Transmission electron microscopic micrography of the affected fetus showed a typical cartilage with large cytoplasmic inclusion bodies,formed by dilated rough endoplasmic reticulum,and relative paucity of collagen fibers in the extracellular matrix.Scanning electron microscopy revealed an irregular ＂strawberry-like＂ structure of the collagen fibers.Conclusion： The above ultrastructural changes of the cartilage cell and collagen fibers might underlie the mechanism of SEDC caused by COL2A1 gene G504S mutation.

关 键 词：先天性脊柱骨骺发育不良 Ⅱ型胶原 软骨细胞 超微结构 

分 类 号：Q754[生物学—分子生物学]