中华医学杂志（英文版）Issue(9)：1418-1421,4.
Analysis of human transforming growth factor β-induced gene mutation in corneal dystrophy
Analysis of human transforming growth factor β-induced gene mutation in corneal dystrophy
李杨 1孙旭光 1任慧媛 2董冰 1王智群 1孙秀英1
作者信息
- 1. Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Sciences, Beijing 100730, China
- 2. Department of Ophthalmology,Baoding Second Hospital,Baoding 071051,China
- 折叠
摘要
Abstract
Background Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. Methods Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor β-induced gene (BIGH3 gene) was performed. Results Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H. Conclusion Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.关键词
corneal dystrophy/BIGH3 gene/gene mutation analysisKey words
corneal dystrophy/BIGH3 gene/gene mutation analysis分类
医药卫生引用本文复制引用
李杨,孙旭光,任慧媛,董冰,王智群,孙秀英..Analysis of human transforming growth factor β-induced gene mutation in corneal dystrophy[J].中华医学杂志（英文版）,2004,(9):1418-1421,4.
