家族性热性惊厥与CAPS基因的相关分析

目的研究CAPS(calcyphsine)基因单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点与家族性热性惊厥(febrile seizures,FS)的关系.方法通过NCBI的dbSNP数据库选择CAPS基因的2个单核苷酸多态性位点,应用聚合酶链式反应-限制性内切酶长度多态性技术,检测54例家族性热性惊厥患儿和90名健康对照者的CAPS基因2个SNPs位点的基因型,用SPSS软件判定个单核苷酸多态性基因型频率分布是否符合Hardy-Weinberg平衡,SNPs基因型频率和基因频率在正常人和患儿中的分布比较用R×C和2×2表x2检验并经连续性校正.结果位点rs7249419的基因型频率符合Hardy-Weinberg平衡,但是它的最小等位基因频率不足1%,其基因型频率和等位基因频率在正常人和患儿间的分布无显著性差异(P＞0.05).位点rs11437855只有1种基因型,均为无插入的纯合子.结论CAPS基因SNP rs7249419、rs11437855可能与家族性热性惊厥无关.

The association study of calcyphosine(CAPS) gene with familiar febrile convulsions

Objective:To investigate the association between single nucleotide polymorphisms (SNPs) of calcyphosine(CAPS) gene and children with familial febrile seizures. Mathods:The study samples were collected from unrelated Chinese Han population of Hebei and Jilin provinces , including a cohort of 54 children with familial febrile seizures(FS) and a control cohort of 90 individuals. Genotypes of SNPs rs7249419,rs11437855 were typed by polymerase chain reaction-restriction fragment length polymorphism. Results: (1) The frequency of genotype of rs7249419 complied with the Hardy-Weinberg equilibrium,but its lowest allele frequency is less than 1%. Neither genotype nor allele frequency showed a significant association with FC. (2) rs11437855 have only one genotype. Conclusion:These data indicate that SNPs rs7249419,rs11437855 of CAPS gene may not contribute to familial febrile seizures in children.