Jin Tao, Zou Liu-he, Yang Ling, Dong Wei-li, Yu Jie, Lu Lan
Department of Ophthalmology, Affiliated Tongren Hospital, Capital Medical University, Beijing, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):32-4.
To identify the mutations of BIGH3 gene in Chinese patients with corneal dystrophies.
Polymerase chain reaction in exon 4, exon 12 and direct DNA sequencing of BIGH3 gene were performed in fifteen patients with corneal dystrophies and ten normal individuals as controls.
Mutations in BIGH3 gene were detected in all the patients with corneal dystrophies. BIGH3 gene mutations were not found in normal subjects. Twelve patients with Avellino corneal dystrophy had the missense mutation R124H in the BIGH3 gene. Three patients with granular corneal dystrophy had the missense mutation R555W in the BIGH3 gene.
R124H and R555W mutations in BIGH3 gene were found in the patients with Avellino and granular corneal dystrophies. Avellino corneal dystrophy associated with the R124H mutation is the most common form in the corneal dystrophies resulting from BIGH3 gene mutations. Condons 124 and 555 are also the hot spots for the mutations in the BIGH3 gene in the Chinese patients with corneal dystrophies.
鉴定中国角膜营养不良患者中BIGH3基因的突变情况。
对15例角膜营养不良患者及10例正常个体作为对照进行BIGH3基因第4外显子、第12外显子的聚合酶链反应及直接DNA测序。
所有角膜营养不良患者均检测到BIGH3基因突变，正常受试者未发现BIGH3基因突变。12例阿韦利诺角膜营养不良患者BIGH3基因存在错义突变R124H。3例颗粒状角膜营养不良患者BIGH3基因存在错义突变R555W。
在阿韦利诺和颗粒状角膜营养不良患者中发现了BIGH3基因的R124H和R555W突变。与R124H突变相关的阿韦利诺角膜营养不良是BIGH3基因突变导致的角膜营养不良中最常见的形式。密码子124和555也是中国角膜营养不良患者BIGH3基因突变的热点。
