[关键词]
[摘要]
Avellino型角膜营养不良(Avellino corneal dystrophy，ACD)是一种常染色体显性眼异常疾病，其病因是位于第5号人类染色体上的转化生长因子β诱导基因(transforming growth factor-beta induced gene，TGFBI)存在R124H突变最终导致异常TGFBI蛋白沉积于角膜组织，而由突变导致异常蛋白质沉积的潜在分子机制目前尚不清楚。近年来，随着人类遗传学、眼病的分子生物学的快速发展和研究技术的不断提高，人们对Avellino型角膜营养不良的发病基础和可能的发病机制有了更多的认识，而尝试组织该疾病发病机制方面的有关研究成果，理解TGFBI和与之相互作用蛋白Periostin在该疾病中所扮演的作用将有助于后续的相关研究。
[Key word]
[Abstract]
Avellino corneal dystrophy(ACD)is an autosomal dominant eye disorder caused by mutation of R124H in the transforming growth factor-beta induced gene(TGFBI)on chromosome 5, which was responsible for accumulating of abnormal TGFBI. Although the underlying mechanism by which mutations cause abnormal TGFBI deposition is not yet clear, but we have a better understanding of the etiology and possible pathogenesis of corneal dystrophy with the rapid development of human genetics and molecular biology, and summarizes the current achievement of this disease and understand the roles of TGFBI and its interaction with Periostin, which may contribute to further research in ACD.
[中图分类号]
[基金项目]
广东省医学科研基金项目(No.A2015438); 深圳市科技创新委员会基础研究项目(No.JCYJ20160428144701106)
