汉族非典型溶血尿毒综合征儿童CFI基因突变分析

Mutations in the CFI gene in children with atypical hemolytic uremic syndrome in Chinese Han ethnic group

目的分析汉族非典型溶血尿毒综合征(aHUS)儿童CFI基因突变及其特点。方法研究对象为9例汉族aHUS儿童和50例尿检正常的汉族成年人。分别取其外周血3ml,提取基因组DNA,应用聚合酶链式反应(PCR)扩增CFI基因的全部13个外显子及其周围部分内含子。应用正反向引物对PCR产物进行直接DNA序列测定。结果在9例汉族aHUS儿童中未发现CFI基因致病突变;但检测出6个CFI基因多态性,即IVS5+61G>A、804G>A、IVS7+99delT、IVS8-49C>G、IVS11+33A>G和*112C>T。结论CFI基因突变不是本研究9例汉族aHUS儿童的主要致病原因。

Objective To examine mutations in the CFI gene in children with atypical hemolytic uremic syndrome （aHUS） in Chinese Han ethnic group.Methods The mutational analysis of the CFI gene was performed in nine children with aHUS in Chinese Han ethnic group,using polymerase chain reaction and DNA sequencing.Results No causative mutations in the CFI gene were found.However,six CFI polymorphisms were identified,IVS5 ＋ 61G〉 A,804G 〉A,IVS7 ＋ 99delT,IVS8-49C〉 G,IVS11 ＋ 33A〉 G and ^＊112C 〉T,in some patients and controls.Conclusions Mutations in the CFI gene is not major cause of aHUS in the nine children of Chinese Han ethnic group in this study.