临床眼科杂志Issue(5)：429-431,3.DOI:10.3969/j.issn.1006-8422.2014.05.016
格子状角膜营养不良一家系的 TGFBI基因突变研究
TGFBI gene mutation analysis of a pedigree with lattice corneal dystrophy
邓莹莹 1王玲丽 1许玲 1邢怡桥 2杨国华2
作者信息
- 1. 442000 湖北医药学院附属太和医院眼科
- 2. 武汉大学附属湖北省人民医院眼科
- 折叠
摘要
Abstract
Objective To establish clinical and genetic diagnosis in a family with lattice corneal dystrophy in the northwest of Hubei province of China , and to investigate the relationship between TGFBI mutation and clinical characters of familial lattice corneal dystrophy .Methods A family from northwesternHubei , China was studied for familial lattice cor-neal dystrophy.Third generation offspring and their spouses ( n =13), and fourth generation offspring ( n =5, including 3 asymptomatic subjects ) of the family were studied .Peripheral blood was collected from each participant and genomic DNA was extracted.The hot spot mutations of encoding region of TGFBI ,4, 11, 12, 13 and 14 exons were amplified by polymer-ase chain reaction ( PCR) , followed by direct gene sequencing .As negative control , six healthy members of the pedigree were also tested .Results The clinical appearance of the family fits the pattern of autosomal dominant inheritance disorder and features of the LCD I/IIIA type.We found a common mutation point of exon 14 by direct gene sequencing: H626R. The TGFBI mutation was not found in the six relatives of the pedigree .Conclusion The patients in the family suffered from lattice corneal dystrophy type I/IIIA, which was directly caused by TGFBI gene H 626R mutations.关键词
格子状角膜营养不良/TGFBI基因/突变Key words
Lattice corneal dystrophy/TGFBI gene/Gene mutation/H626R引用本文复制引用
邓莹莹,王玲丽,许玲,邢怡桥,杨国华..格子状角膜营养不良一家系的 TGFBI基因突变研究[J].临床眼科杂志,2014,(5):429-431,3.
