KHSRP基因多态性与家族性热性惊厥关联研究

目的 研究KH型剪切调控蛋白（KH-type splicing regulatory protein,KHSRP)基因的单核苷酸多态性（single nucleotide polymorphisms,SNPs)与家族性热性惊厥（febrile convulsions,FC)的关系。方法 通过NCBI的dbSNP数据库搜索KHSRP基因的单核苷酸多态性位点，运用位点特异性PCR（site-specificPCR amplification,SSP)和变性高效液相色谱（Dena-turing High Performance Liquid Chromatography,DHPLC)技术对来自中国北方的健康人群和家族性惊厥病人进行SNPs基因分型。结果 KHSRP基因三个多态性住点的基因型在健康人群均符合 Hardy-Weinberg平衡，各等位基因频率和基因型频率在病人和健康人无显著差异。结论 KHSRP基因的3个多态性位点的SNPs均与FC不相关，提示KHSRP基因可能不是FC的易感基因。

Study on the relation between the KHSRP gene polymorphisms and the family febrile convulsions.

Objective: To study the association between the SNPs at the KHSRP gene and Febrile convulsions. Methods: We searched all the SNPs of the KHSRP gene from the public database, dbSNP. The genotypes of the SNPs were detected by SSP and DHPLC methods. Results: The frequency of genotype of the three SNPs complied with the Hardy-Weinberg equilibrium. Neither genotype nor allele frequency showed a significant association with FC. Conclusions: The KHSRP gene may not contribute to susceptibility to FC.