Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy

作     者：Qiao-Na Yang, Su-Ping Cai 

作者机构：Ophthalmic Laboratories & Department of Ophthalmology West China Hospital Sichuan University Chengdu 610041 Sichuan Province China Department of Ophthalmology the Affiliated Hospital of Vocational Technology Institute of Yongzhou Hunan Province China 

出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)

年 卷 期：2011年第4卷第3期

页      面：235-238页

核心收录：

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

基　　金：Supported by grants from the National Natural Science Foundation of China (No. NNSF 81000370) 

主　　题：Reis-Bücklers corneal dystrophy molecular genetics mutation TGFBI R124C 

摘      要：AIM: To analyze mutations in transforming growth factor beta-induced (TGFBI) gene in a Chinese pedigree with Reis-Bücklers corneal dystrophy (RBCD,also known as GCD3).METHODS: In a five-generation Chinese family,eight members were identified with RBCD and the rest were *** members of the family underwent complete ophthalmologic *** of TGFBI were amplified by polymerase chain reaction,sequenced,and compared with a reference ***: A single heterozygous CT (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree,but not in the unaffected ***: R124C which was a known mutation for lattice corneal dystrophy type I,segregated with the RBCD in this *** elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.