小儿热性惊厥对HLA-Ⅱ类基因的遗传易感性  

Hereditary susceptibility of HLA-Ⅱ class genes in febrile convulsions

作　　者：车桂华[1] 李玉杰[4] 赵青[1] 宋艳红[2] 隋素琴[3] 马晖[1] 王丽蓉[1] 刘开运[1] 杨华[1] 任少敏[5] 李维才[5] 

机构地区：[1]内蒙古医学院第四附属医院儿科,内蒙古自治区包头014032 [2]内蒙古医学院第四附属医院内科,内蒙古自治区包头014032 [3]内蒙古医学院第四附属医院内科,内蒙古自治区包头014032 [4]北京大学第一医院儿科 [5]内蒙古医学院第一附属医院儿科

出　　处：《中国基层医药》2007年第10期1599-1602,共4页Chinese Journal of Primary Medicine and Pharmacy

基　　金：内蒙古自治区包头市医药卫生科技基金项目(2004G2322-34)

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。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 after 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.

关 键 词：惊厥 发热性 HLA-DQ DR基因 PCR-SSP 儿童 

分 类 号：R720.597[医药卫生—急诊医学]