单纯性热性惊厥与酪蛋白激酶1γ1基因的相关性研究  

Association Study on Simple Febrile Seizures and Casein Kinase 1,Gamma 1 Gene

作　　者：李玉杰[1] 马袆楠[2] 陈祖更[3] 田古[1] 邹丽萍[4] 方方[4] 戚豫[2] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]北京大学第一医院中心实验室,北京100034 [3]美国加州大学人类遗传系,美国洛杉矶90095 [4]首都医科大学附属北京儿童医院儿科,北京100045

出　　处：《实用儿科临床杂志》2008年第4期291-293,共3页Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金项目资助(30471831);北京市自然科学基金项目资助(7051005)

摘　　要：目的对单纯性热性惊厥(sFS)患儿酪蛋白激酶1γ1(CSNK1G1)基因进行突变筛查,寻找sFS的易感基因及发病机制。方法对陕西省包括配偶在内的sFS家系三代17人,用聚合酶链反应扩增CSNK1G1基因的13个外显子及预测的启动子区域并测序,将测序结果与人类基因序列数据信息比较,寻找突变碱基。以另外50例家族性sFS患者和相同地区50例健康儿童作为病例和健康对照组,均为中国北方汉族人,应用聚合酶链式反应-限制性片段长度多态性方法检测CSNK1G1基因的2个单核苷酸多态(SNPs)位点的多态性,应用SPSS10.0软件对2个SNPs位点的多态性分布进行χ2检验,运用EH1.20软件分析单体型频率,并以单体型为标记进行相关分析。结果在陕西省sFS家系的突变筛查中,在CSNK1G1基因扩增的区域内未发现SNPs位点及与该疾病相关碱基突变。在病例及健康对照组研究中,2个SNPs位点的等位基因频率、基因型频率和由2个SNPs位点构成的单体型频率均无统计学差异(Pa>0.05)。结论在中国北方人群中,CSNK1G1基因可能不是sFS的致病基因。Objective To identified the susceptibility gene for simple febrile seizures（sFS） by screening mutations of casein kinase 1, gamma 1 （CSNK1G1） gene and to study the association of the gene with sFS. Methods All of the 13 exons and predicted promotors of the CSNK1 G1 gene were amplified with polymerase chain reaction （PCR） and then sequenced on 17 members to find mutations in the sFS pedigree from Shanxi Erovlnce. Sequencing results were contrasted with sequence message of human genome date base ,then mutation basy 1 were discovered. On other 50 sFS patients and 50 controls from northern Chinese Han population,two single nucleotide polymorphisms （SNPs） in CSNK1 G1 gene were identified with the method of PCR -restrietion fragment length polymorphism and χ2 tests were all performed using the software package SPSS 10, 0,EH 1.20 software was used to estimate haplotype frequency to study the association. Results No mutations and SNPs in CSNK1 G1 gene were found in this pedigree. Allele frequencies, genotype frequencies and the haplotype frequencies of 2 SNPs had no significant differences between sFS group and control group（Pa 〉 0.05 ）. Conclusion CSNK1G1 gene may not be a susceptibility gene for sFS in the northern Chinese Han population.

关 键 词：惊厥 发热性 酪蛋白激酶1γ1基因 单核苷酸多态 单体型 

分 类 号：R720.597[医药卫生—急诊医学]