9例汉族非典型溶血尿毒综合征儿童CFH基因突变分析  

Analysis of mutations in complement factor H gene in children with sporadic atypical haemolytic uraemic syndrome

作　　者：姜采荣[1,2] 叶礼燕[1] 余自华[1] 任榕娜[1] 陈光明[1] 王承峰[1] 黄隽[1] 聂晓晶[1] 黄俊景[1] 夏桂枝[1] 

机构地区：[1]南京军区福州总医院儿科,福建福州350025 [2]内蒙古包头市第四医院

出　　处：《临床儿科杂志》2010年第9期840-845,共6页Journal of Clinical Pediatrics

基　　金：南京军区医学科学技术研究"十一五"计划课题项目(No.06MA151)

摘　　要：目的检测并分析中国汉族散发性非典型溶血尿毒综合征(aHUS)儿童补体H因子基因(CFH)突变。方法 9例南方汉族散发性aHUS儿童和50例尿检正常的南方汉族成年人,应用PCR和DNA直接测序法进行CFH检测。结果在9例汉族散发性aHUS儿童中检测出15个CFH基因变异——IVS11-64T>A、IVS19+8G>T、IVS18-87T>C、c.2016A>G(Q672Q)、c.2808G>T(E936D)、IVS1-36C>T、IVS19-5T>C、c.1419G>A(A473A)、c.3138C>T(T1046T)、c.3291G>A(T1097T)、c.184G>A(V62I)、c.1204C>T(H402Y)、c.3172T>C(Y1058H)、c.3178G>C(V1060L)和c.3226C>G(Q1076E),其中2个变异(IVS11-64T>A、IVS19+8G>T)在100条正常染色体中未检出,且未见文献报道;其余13个变异在100条正常染色体中也有检出,为CFH基因多态性。在13个CFH基因多态性中,IVS18-87T>C未见文献报道,其余12个CFH基因多态性已见报道。结论在9例中国南方汉族散发性aHUS儿童中新发现了2个变异和1个CFH基因多态性,以及12个已报道的CFH基因多态性。Objective To examine and analyze the mutations in complement factor H gene（CFH） in children with sporadic atypical haemolytic uraemic syndrome（aHUS） in southern Chinese Han ethnic people.Methods Nine Han ethnic children（including 2 girls and 7 boys,mean age of 5 years） with sporadic aHUS were enrolled in the study,and 50 Han ethnic adult with normal urine results were studied as control.CFH gene was analyzed by polymerase chain reaction and direct sequencing.In addition,the allele frequencies of variants of CFH gene were compared between patients and controls.Results Fifteen variants of CFH were identified in the patients：IVS11-64T〉A,IVS19＋8G〉T,IVS18-87T〉C,c.2016A〉G（Q672Q）,c.2808G〉T（E936D）,IVS1-36C〉T,IVS19-5T〉C,c.1419G〉A（A473A）,c.3138C〉T（T1046T）,c.3291G〉A（T1097T）,c.184G〉A（V62I）,c.1204C〉T（H402Y）,c.3172T〉C（Y1058H）,c.3178G〉C（V1060L）,and c.3226C〉G（Q1076E）.Among them,2 novel variants（IVS11-64T〉A and IVS19＋8G〉T） were not found in the controls,and other 13 variants were also detected in the controls,indicating that these 13 variants were polymorphisms of CFH gene.Among the 13 variants,12 CFH polymorphisms have been reported previously,with the exception of IVS18-87T C.Conclusions Two novel variants of CFH gene,1 novel CFH polymorphisms,and 12 CFH polymorphisms have been found in the patients with sporadic aHUS in this study.

关 键 词：非典型溶血尿毒综合征 CFH基因 突变 汉族 

分 类 号：R726.9[医药卫生—儿科]