Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa  

作　　者：刘立[1] 陈浩明[1] 刘木根[1] 金磊[1] 魏勇[1] 吴学军[1] 刘又鹗 褚仁远[3] 柴建华[1] 

机构地区：[1]上海复旦大学遗传学研究所人类基因组实验室,上海200433 [2]上海市闸北区眼科医院,上海200071 [3]复旦大学医学院附属眼科医院,上海200031

出　　处：《Chinese Medical Journal》2002年第6期833-836,149,共4页中华医学杂志（英文版）

基　　金：supported by the“863”Project(No．86310210); the National Natural Science Foundafion of China(No．3987O4O1)．

摘　　要：Objective To detect mutations of the retinitis pigmentosa GTPase regulator (RPGR) gene in two Chinese X-linked retinitis pigmentosa families. Methods Fragments of exons 1-19 of the RPGR gene were amplified with intronic primers, using genomic DNA as template. The polymerase chain reaction (PCR) products were analysed by single-strand conformation polymorphism (SSCP) and direct sequencing. Mutations were identified by comparing DNA sequences of the patients with those of the normal controls.Results Two novel mutations, c1536delC and E332X, were identified in exons 12 and 9 of the RPGR gene in both families. Each mutation was the first mutation found in their respective exons. Both mutations were predicted to cause premature termination, which resulted in truncated proteins without normal functions of the RPGR products.Conclusions Both mutations are the genetic basis of the pathogenesis in the respective families. Our data might be helpful in analysing the function of the RPGR protein.OBJECTIVE: To detect mutations of the retinitis pigmentosa GTPase regulator (RPGR) gene in two Chinese X-linked retinitis pigmentosa families. METHODS: Fragments of exons 1-19 of the RPGR gene were amplified with intronic primers, using genomic DNA as template. The polymerase chain reaction (PCR) products were analysed by single-strand conformation polymorphism (SSCP) and direct sequencing. Mutations were identified by comparing DNA sequences of the patients with those of the normal controls. RESULTS: Two novel mutations, c1536delC and E332X, were identified in exons 12 and 9 of the RPGR gene in both families. Each mutation was the first mutation found in their respective exons. Both mutations were predicted to cause premature termination, which resulted in truncated proteins without normal functions of the RPGR products. CONCLUSIONS: Both mutations are the genetic basis of the pathogenesis in the respective families. Our data might be helpful in analysing the function of the RPGR protein.

关 键 词：Eye Proteins Linkage (Genetics) Mutation X Chromosome Carrier Proteins Female Humans Male Polymerase Chain Reaction Polymorphism  Single-Stranded Conformational Research Support  Non-U.S. Gov't Retinitis Pigmentosa Sequence Analysis  DNA 

分 类 号：R774.13[医药卫生—眼科]