单纯性家族性热性惊厥与HCN2基因的相关研究  

Association between familial febrile convulsions and HCN2 gene

作　　者：马祎楠[1] 陈志越[1] 邹丽萍[2] 张英[3] 钮淑兰[3] 许玉凤[3] 裴佩[3] 卜定方[3] 戚豫[3] 

机构地区：[1]北京大学第一医院儿科,100034 [2]首都医科大学附属北京儿童医院 [3]北京大学第一医院中心实验室

出　　处：《中华医学杂志》2005年第10期663-666,共4页National Medical Journal of China

基　　金：国家自然科学基金资助项目(30170993)

摘　　要：目的研究HCN2基因是否为中国儿童单纯性家族性热性惊厥(FC)的易感基因。方法选择60例北方汉族单纯性家族性热性惊厥患儿,对位于染色体19p13.3区域的HCN2基因的外显子进行PCR扩增,PCR产物纯化后进行测序用以寻找可能的突变。对发现突变的区域,加入101名来自同一地区的正常人作对照。结果3～8外显子均没有发现突变,找到14个单核苷酸多态性位点(SNP),其中8个还没有报道(714T→C、723T→C、858T→C、915C→T、921C→T、963C→T、IVS4+6C→T、IVS5157G→A)。选择9个SNP作为遗传标记,进行相关分析。各SNP的等位基因频率和基因型频率在FC组(60例)和对照组(101名)之间差异无统计学意义。结论HCN2基因可能不是单纯性家族性热性惊厥的易感基因。Objective To investigate the possible association of familial febrile convulsions with HCN2 gene. Methods PCR was conducted on the DNA of peripheral blood white cells from 60 children with familial febrile convulsion (FC) of Han nationality population in northern China aged 1.5±1.0 (8 months to 5 years old), to amplify the exons of HCN2 gene. The PCR products underwent sequencing to identify the possible mutations. 101 normal children from the same area were used as controls. Results No mutation was found in the exons of HCN2 gene, however, 14 single nucleotide polymorphisms (SNPs) were found among which there were 8 newly identified SNPs. Using 9 SNPs as markers, association study was conducted between the FC group and control group. There were no significant differences in allele frequencies and genotype frequencies of the 9 SNPs between the FC group and control group. ~Conclusion HCN2 may not be a susceptibility gene for FC in Chinese population.

关 键 词：单纯性 热性惊厥 家族性 易感基因 突变 SNP 相关研究 外显子 PCR产物 北方汉族 

分 类 号：R742.1[医药卫生—神经病学与精神病学]