KHSRP基因多态性与家族性热性惊厥关联研究  

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

作　　者：郝磊[1] 戚豫[1] 

机构地区：[1]北京大学第一医院中心实验室,100034

出　　处：《中国优生与遗传杂志》2003年第3期30-32,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　研究KH型剪切调控蛋白 (KH -typesplicingregulatoryprotein ,KHSRP)基因的单核苷酸多态性 (singlenucleotidepolymorphisms ,SNPs)与家族性热性惊厥 (febrileconvulsions,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 -specificPCRamplification ,SSP)和变性高效液相色谱 (Dena turingHighPerformanceLiquidChromatography ,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基因三个多态性位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。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.

关 键 词：热性惊厥 单核苷酸多态性 易感基因 关联 

分 类 号：R720.597[医药卫生—急诊医学]