中国一个Reis-Bücklers角膜营养不良家系的TGFBI基因突变分析
TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.
作者信息
Ma Ke, Liu Guo, Yang Yin, Yu Man, Sui Ruifang, Yu Wenhan, Chen Xiaoming, Deng Yinping, Yan Naihong, Cao Guiqun, Liu Xuyang
出版信息
Mol Vis. 2010 Mar 31;16:556-61.
PURPOSE
To analyze transforming growth factor beta-induced (TGFBI) gene mutations in a Chinese pedigree with Reis-Bücklers dystrophy (RBCD).
METHODS
In a four-generation Chinese family with Reis-Bücklers dystrophy, six members were patients 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. The sequencing results were reconfirmed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
RESULTS
A single heterozygous C>T (R124C) point mutation was found in exon 4 of TGFBI in all six members of the pedigree affected with RBCD, but not in the unaffected members.
CONCLUSIONS
Within this pedigree, RBCD segregates with the R124C variance, which is a known mutation for lattice corneal dystrophy type I. Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
目的
分析一个患有Reis-Bücklers营养不良（RBCD）的中国家系中转化生长因子β诱导（TGFBI）基因突变情况。
方法
在一个四代患有Reis-Bücklers营养不良的中国家系中，6名成员患病，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外显子，进行测序，并与参考数据库进行比较。测序结果通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行再次确认。
结果
在所有6名患有RBCD的家系成员的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
在这个家系中，RBCD与R124C变异共分离，R124C变异是已知的I型格子状角膜营养不良的突变。因此，与G623D和R124L一样，TGFBI中的R124C突变也被发现与RBCD有关。
Zotero 插件