摘要
TGFBI是最常见的角膜营养不良致病基因,角膜营养不良家系在TGFBI基因上的突变已发现33种,TGFBI基因表达的产物角膜上皮蛋白（keratoepithelin,KE蛋白）沉积于患者角膜中.1998-2014年中国人角膜营养不良TGFBI基因突变类型已报告17种,约71个家系445例患者,其中由R555W突变导致的Ⅰ型颗粒状角膜营养不良占28.2％,由R124H突变导致的Ⅱ型颗粒状角膜营养不良占23.9％,而Thiel-Behnke角膜营养不良家系在中国人较少见（5％）.
Genotypic analysis has revealed that TGFBI gene is the most important and common pathogenic gene to corneal dystrophy.Tirty-three mutations of TGFBI gene had been reported in corneal dystrophy families.Keratoepithelin protein （KE protein） expressed by TGFBI gene was always deposited in the different layer of the cornea.In Chinese corneal dystrophy families,17 TGFBI gene mutations （445 cases,71 families） were detected from 1998 to 2014.Among them,28.2％ mutations were R555W which induced granular corneal dystrophy type Ⅰ （GCD Ⅰ）,23.9％ mutations were R124H related to granular corneal dystrophy type Ⅱ （GCD Ⅱ）,and 5％ mutations were reltaed to Thiel-Behnke corneal dystrophy.
出处
《国际眼科纵览》
2014年第4期236-241,共6页
International Review of Ophthalmology
