家族性热性惊厥患儿酪蛋白激酶γ2基因单核苷酸多态性研究  

Five single nucleotide polymorphisms of casein kinase Ⅰ gamma 2 gene in children with familial febrile convulsions

作　　者：马祎楠[1] 郝磊[1] 钮淑兰[1] 许玉凤[1] 张英[1] 裴珮[1] 卜定方[1] 戚豫[1] 

机构地区：[1]北京大学第一医院儿科,100034

出　　处：《中华医学遗传学杂志》2004年第4期347-350,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金 (30 1 70 993)~~

摘　　要：目的　研究酪蛋白激酶γ2 (caseinkinaseⅠ gamma 2 ,CSNK1G2 )基因单核苷酸多态性 (singlenucleotidepolymorphisms ,SNPs)位点与家族性热性惊厥的关系。 方法　通过NCBI的dbSNP数据库选择CSNK1G2基因的 5个单核苷酸多态性位点 ,应用聚合酶链式反应 限制性内切酶片段长度多态性技术 ,检测 5 3例家族性热性惊厥患儿和 10 1名健康对照者的CSNK1G2基因 5个SNPs位点的基因型 ,并使用EH1.2 0程序构建单体型并以单体型为标记进行进一步的患儿和正常人相关分析。结果　 5个SNPs位点的基因型频率在惊厥患儿和正常人群中分布均符合Hardy Weinberg平衡。其中 3个位点SNPrs740 42 3、rs2 2 7773 7、rs10 5 9684的基因型频率和基因频率在家族性热性惊厥患儿和对照组分布差异有显著性 (P <0 .0 5 ) ,1个位点rs2 0 74882基因型频率和基因频率在两组人群中分布差异无显著性 (P >0 .0 5 ) ,另一位点rs480 682 5因基因频率较低 ,故未作统计。结论　CSNK1G2基因SNPsrs740 42 3、rs2 2 7773 7、rs10 5 9684可能与家族性热性惊厥相关。Objective To investigate the association between single nucleotide polymorphisms (SNPs) of casein kinase Ⅰ gamma 2 (CSNK1G2) gene and children with familial febrile convulsions. Methods The study samples were collected from unrelated Chinese Han population of Hebei province, including a cohort of 53 children with familial febrile convulsions(FC) and a control cohort of 101 individuals. Genotypes of SNPs rs2074882, rs740423, rs2277737, rs4806825, rs1059684 were typed by polymerase chain reaction-restriction fragment length polymorphism. Results The frequencies of the five SNPs complied well with the Hardy-Weinberg equilibrium in FC group and normal group. The distribution of genotype and frequencies of alleles of the SNPs rs740423, rs2277737, rs1059684 in familial febrile convulsions group was significantly different from that in control group. No significant difference was observed in the distribution of genotypes and frequencies of alleles at SNP rs2074882 between two groups. Analysis on rs4806825 was not made owing to its less allele frequency. Conclusion These data indicate that SNPs rs740423, rs2277737, rs1059684 of CSNK1G2 gene may contribute to familial febrile convulsions in children.

关 键 词：热性惊厥 家族性 SNP 患儿 基因频率 单核苷酸多态性 基因型频率 激酶 NCBI 位点 

分 类 号：R720.597[医药卫生—急诊医学] R544.1[医药卫生—儿科]