Zhang Chunmei, Zeng Guang, Lin Hui, Li Dandan, Zhao Liming, Zhou Nan, Qi Yanhua
Department of Ophthalmology, Harbin Medical University the 2nd Affiliated Hospital, Harbin, China.
Mol Vis. 2009 Nov 28;15:2498-502.
To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I).
Genomic DNA of three affected, four unaffected family members and 50 normal individuals was extracted from peripheral leukocytes. All exons of TGFBI were amplified by polymerase chain reaction (PCR) methods and direct sequencing was carried out for mutation analysis.
A missense mutation (1565T-->A) in exon12 of TGFBI led to an amino acid substitution I522N in the TGFB-induced protein in all affected family members, but the mutation was not detected in normal subjects of the family and control individuals.
We conclude that the novel mutation I522N causes lattice corneal dystrophy type I in the studied family. This is the first report of the I522N mutation within TGFBI in LCD I worldwide.
鉴定一个患有I型格子状角膜营养不良（LCD I）的中国家系中转化生长因子β诱导蛋白（TGFBI）基因的突变。
从三名患病、四名未患病家族成员及50名正常个体的外周血白细胞中提取基因组DNA。采用聚合酶链反应（PCR）方法扩增TGFBI的所有外显子，并进行直接测序以分析突变情况。
TGFBI基因第12外显子中的一个错义突变（1565T→A）导致所有患病家族成员中TGFB诱导蛋白的第522位氨基酸由异亮氨酸（I）替换为天冬酰胺（N），但在该家族的正常受试者及对照个体中未检测到该突变。
我们得出结论，新发现的I522N突变导致了所研究家系中的I型格子状角膜营养不良。这是全球范围内关于LCD I中TGFBI基因I522N突变的首次报道。
