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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 investigate the mutation of caspase 1γ1 (CSNK1G1) gene in children with simple febrile seizures (sFS) and find the susceptibility gene and its pathogenesis of sFS. METHODS: Seven generations of sFS pedigrees including spouses in Shaanxi province were amplified by PCR from 13 exons and predicted promoter region of CSNK1G1 gene. Sequencing results were compared with those of human genome sequence data. Find mutant bases. The other 50 cases of familial sFS patients and 50 healthy children in the same area as the case and healthy control group were all Han nationality in northern China. Two of the CSNK1G1 genes were detected by polymerase chain reaction-restriction fragment length polymorphism Single nucleotide polymorphism (SNPs) polymorphism sites, the use of SPSS10.0 software polymorphism distribution of two SNPs loci χ2 test using EH1.20 software analysis haplotype frequency, and to single Body type is marked for correlation analysis. Results In the mutation screening of sFS pedigrees in Shaanxi Province, no SNPs loci and base-related mutations were found in the amplified region of CSNK1G1 gene. There was no significant difference in allele frequency, genotype frequency and haplotype frequency in two SNPs loci in case and healthy control group (Pa> 0.05). Conclusion CSNK1G1 gene may not be the causative gene of sFS in northern Chinese population.