国际眼科纵览 ›› 2012, Vol. 36 ›› Issue (2): 98-103.doi: 10. 3760/ cma. j. issn16735803. 2012. 02. 006

• 综述 • 上一篇    下一篇

先天性白内障相关致病基因研究进展

樊帆 李丹 罗怡   

  1. 200031 上海,复旦大学附属眼耳鼻喉科医院眼科
  • 收稿日期:2012-01-17 出版日期:2012-04-22 发布日期:2012-04-24
  • 通讯作者: 罗怡,Email:yeeluo116@sina.com

Gene study in congenital cataract

FAN Fan, LI Dan, LUO Yi.   

  1. Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai 200031, China
  • Received:2012-01-17 Online:2012-04-22 Published:2012-04-24
  • Contact: LUO Yi, Email: yeeluo116@sina.com

摘要: 约一半先天性白内障的发生与遗传相关。迄今为止,在人类及其他动物定位的遗传性先天性白内障的致病基因主要有晶状体结构蛋白基因、膜蛋白基因、细胞骨架蛋白基因以及调控晶状体早期发育的转录调节因子基因。现已证实与先天性白内障相关的基因中至少有26个特定基因突变位点。本文对先天性白内障相关致病基因研究进展进行综述。(国际眼科纵览, 2012, 36: 98-103)

Abstract: Approximately fifty percent of all congenital cataract cases may have a genetic cause. Inherited congenital cataracts have been associated with mutations in specific genes, at least 26 of which have been located and identified up to now, including those of crystallins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. The purpose of this article is to review the literature on the recent advances about the molecular genetic basis of congenital cataracts.  (Int Rev Ophthalmol, 2012, 36: 98-103)