一个新的COL4A5基因的剪接位点突变引起Alport综合征  

A novel COL4A5 splicing mutation causing Aiport syndrome in a Chinese family

作　　者：唐朝晖[1] 戴勇[2] 万智慧[1] 詹泰岚[1] 谭金旺 任翔[1] 刘静宇[1] 王擎[1] 刘木根[1] 

机构地区：[1]华中科技大学分子生物物理教育部重点实验室,人类基因组研究中心和生命科学与技术学院,武汉430074 [2]深圳市人民医院临床医学中心

出　　处：《中华医学遗传学杂志》2008年第6期649-652,共4页Chinese Journal of Medical Genetics

基　　金：国家863计划（2006AA022476）;国家自然科学基金（30571677,30771199）

摘　　要：目的对一个Alport综合征家系进行研究，期望找到导致该家系发病的遗传基础。方法对家系成员采样并提取DNA，对家系中的先证者和1名正常对照进行COL4A5基因全部编码区域的突变检测，限制性片段长度多态性分析技术对家系中所有成员和200名正常对照进行验证。结果在该Alport综合征家系中发现一个新的COL4A5基因的剪接位点突变c．1517-1G〉T，而在家系的未患病成员，以及对照人群中未能检测到该突变。结论发现了一个新的COL4A5基因的剪接位点改变c．1517-1G〉T，该突变可导致Alport综合征，该发现丰富了引起Alport综合征的COL4A5基因的突变谱。Objective To identify the pathogenic mutation in a Chinese family with Alport syndrome. Methods Blood samples were collected from the members of the family. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of the COL4A5 gene was performed, and restriction fragment length polymorphism （RFLP） analysis was used to confirm the sequencing results and to test the mutation in all the family members and 200 controls. Results A novel splicing mutation of c. 1517-1G〉 T in the COL4A5 gene was identified in all patients in the family. RFLP analysis did not detect this mutation in all the unaffected family members and the 200 controls. Conclusion This data revealed a novel splicing mutation of c. 1517-1G 〉 T in the COL4A5 gene causing Alport syndrome in a Chinese family. Author＇s study enriched the spectrum of COL4A5 mutation associated with Alport syndrome.

关 键 词：COL4A5基因 ALPORT综合征 剪接 突变 限制性片段长度多态性 

分 类 号：R686[医药卫生—骨科学]