中国Reis-Bücklers角膜营养不良家系中TGFBI基因的Arg124Cys突变
Arg124Cys mutation of the TGFBI gene in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
作者信息
Yang Qiao-Na, Zhao Yong-Wang, Guo Li-Heng, Yan Nai-Hong, Liu Xu-Yang, Cai Su-Ping
机构信息
Ophthalmic Laboratories & Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.
出版信息
Int J Ophthalmol. 2011;4(3):235-8. doi: 10.3980/j.issn.2222-3959.2011.03.03. Epub 2011 Jun 18.
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 unaffected. All members of the family underwent complete ophthalmologic examinations. Exons of TGFBI were amplified by polymerase chain reaction, sequenced, and compared with a reference database.
RESULTS
A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all the affected members of the pedigree, but not in the unaffected members.
CONCLUSION
R124C which was a known mutation for lattice corneal dystrophy type I, segregated with the RBCD in this pedigree. This elucidated the correlation between genotype and phenotype in a Chinese family of RBCD.
目的
分析一个患有Reis-Bücklers角膜营养不良（RBCD，也称为GCD3）的中国家系中转化生长因子β诱导（TGFBI）基因的突变情况。
方法
在一个五代中国家系中，鉴定出8名患有RBCD的成员，其余成员未患病。该家系所有成员均接受了全面的眼科检查。通过聚合酶链反应扩增TGFBI的外显子，进行测序，并与参考数据库进行比较。
结果
在该家系所有患病成员的TGFBI第4外显子中发现了一个单一的杂合C>T（R124C）点突变，而未患病成员中未发现。
结论
R124C是已知的I型格子状角膜营养不良的突变，在这个家系中与RBCD共分离。这阐明了一个中国RBCD家系中基因型与表型之间的相关性。
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