【摘要】 目的探索小儿热性惊厥(FC)的HLA-DQA1和HLA-DRB1等位基因的遗传易感性,揭示其遗传背景。方法采用病例对照研究策略,引入PCR-SSP技术,在祖籍三代居住包头地区,无血缘关系,无与异族通婚史及其他神经和免疫系统疾病史和家族史的汉族人群中,选择53例FC为病例组,53名健康儿童为对照组,作以HLA-DQA1和HLA-DRB1等位基因的型别分析。基因频率比较在单因素分析的基础上又作以多因素Lo- gistic回归。结果病例组HLA-DQA1*0101基因频率为8.5%,比对照组的1.9%高,P=0.047<0.05。B= 1.566>0,OR=4.789>1,其95%可信区间为1.021～22.547.其内不包含1。EF=0.647>0。促进发病;而HLA-DQA1*0401基因频率在病例组为0.9%,比对照组的8.5%低,P=0.035<0.05。B=-2.240<0,OR= 0.106<1,其95%可信区间为0.013～0.857,其内不包含1。PF=0.458>0。阻止发病。HLA-DRB1基因频率比较均P>0.05,OR的95%可信区间内亦包含1。结论HLA-DQA1*0101等位基因可能是包头地区小儿FC发病单体型中一个遗传易感基因;而HLA-DQA1*0401等位基因可能为其保护基因。HLA-DRB1等位基因与FC发病无关联性。更多还原

【Abstract】 Objective To investigate the correlation of the polymorphism of HLA-DQA1 allele and HLA- DRB1 allele and child febrile convulsions in Han nationality children in Baotou in order to interpret the genetic basis of susceptibility and molecular pathogenesis of FC.Methods 53 Han nationality patients with febrile convulsion and 53 normal Han nationality children controls in Baotou region were tested for HLA-DQA1 and HLA-DRB1 allelic types analysis by PCR-SSP technique.The comparison of gene frequencies were dealt with by Logistic regression af- ter one-way or Fisher test.Results The gene frequency of HLA-DQA1 * 0101 allele in children FC was 8.5%, which was higher than that of the control group(1.9 %.P=0.047<0.05,B=1.566>0,OR = 4.789>1,its 95 % confident interval was 1.02～122.547,EF= 0.647>0);while the gene frequency of HLA-DQA1 * 0401 allele in children FC was 0.9 %,which was lower than that of the control group(8.5 %,P = 0.035<0.05,B =-2.240<0,OR = 0.106<1,its 95 % confident interval was 0.013～0.857,PF = 0.458>0).Conclusion HLA-DQA1 0101 allele maybe a susceptible gene and HLA-DQA1 * 0401 allele maybe a protective gene of FC in children FC in Han nationality in Baotou.There was no correlation between HLA-DQB1 and FC.更多还原