摘要
先天性白内障是儿童主要的致盲性眼病之一,约1/3与遗传有关。迄今为止,与遗传性自内障相关的基因至少有22个:10个晶状体蛋白基因:CRYAA、CRYAB、CRYBA1/A3、CRYBA4、CRYBB1、CRYBB2、CRYBB3、CRYGC、CRYGD、CRYGS;4个膜蛋白基因:GJA3、GJA8、MIP、LIM2;3个发育及转录因子基因:PITX3、MAF、HSF4;2个细胞骨架蛋白基因:BSFP1、BSFP2;1个染色质修饰蛋白4B基因:CHMP4B;1个酪氨酸激酶受体基因:EPHA2,1个NHS基因,其中部分基因已经在细胞学水平和(或)动物模型的整体水平对其功能进行研究,这将有助于揭示先天性白内障的发病机制。
Congenital cataract is the common cause of visual disability in children. Inherited isolated (non-syndromic) cataract represents one third of cases. Currently, at least 22 specific genes associated with isolated inherited cataract have been identified: ten erystallin genes: CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS; 4 membrane protein genes: GJA3, GJA8, MIP, LIM2; three growth and transcription factor genes: PITX3, MAF, HSF4; two cytoskeletal protein gene: BSFP1, BSFP2; ehromatin modifying protein-4B gene: CHMP4B, EPHA2 and NHS, it is likely that more genes remain to be discovered. Some of the genes have been studied for their function by expression in cells or/and by knock-out animal models. The increasing availability of more detailed information about their functions makes it possible to understand the pathophysiology of congenital cataracts.
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2010年第3期280-284,共5页
Chinese Journal of Ophthalmology
关键词
白内障
染色体图
晶体蛋白质类
膜蛋白质类
转录因子
Cataract
Chromosome mapping
Crystallins
Membrane proteins
Transcription factors