【作者】 刘洋；

【导师】 李海波；

【作者基本信息】 吉林大学 ， 临床医学， 2011， 硕士

【摘要】 目的:研究癫痫患儿红细胞免疫粘附功能与红细胞CR1密度相关基因多态性的关系,试图揭示癫痫患儿红细胞免疫功能低下的遗传学基础。方法:收集2010年4月~2010年8月于吉林大学第一医院儿科门诊就诊的60例首诊癫痫患儿和60例同期体检健康儿童。采用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)方法测定红细胞CR1密度相关基因多态性,红细胞免疫粘附活性采用红细胞C3b受体花环率和红细胞免疫复合物花环率的方法测定。结果:(1)癫痫组患儿RBC-C3bRR和RBC-ICR花环率(%)显著低于对照组(P<0.01)。癫痫组内全身性发作和部分性发作之间红细胞免疫花环率比较无差异。癫痫组不同性别间红细胞免疫功能比较无差异。(2)癫痫组HH、HL和LL基因型频率分别为71.7%、21.7%和6.6%,对照组HH、HL和LL基因型频率分别为75.0%、15.0%和10.0%。两组ECR1基因型频率和等位基因频率比较无明显差异。癫痫组部分性发作HL基因型高于全身性发作(P<0.05),但HH和LL基因型分布在不同癫痫发作类型间无差异。癫痫不同发作类型等位基因频率比较无差异。癫痫组不同性别之间相同ECR1基因型频率和等位基因频率比较差异无显著性。(3)分别比较组间和组内ECR1不同基因型红细胞免疫花环数:癫痫组HH基因型RBC-C3bRR%和RBC-ICR%花环率较对照组相同基因型降低(P<0.01),癫痫组HL/LL基因型RBC-C3bRR%花环率较对照组相同基因型降低(P<0.05),而RBC-ICR%无明显差异,癫痫组内HH和HL/LL基因型间RBC-C3bRR%花环率比较无差异,癫痫组内HH基因型RBC-ICR%花环率较HL/LL基因型降低(P<0.01),对照组内HH和HL/LL基因型间RBC-C3bRR%和RBC-ICR%比较无明显差异。结论:1、癫痫患儿存在红细胞免疫功能低下,认为红细胞免疫参与癫痫的病理生理过程。2、ECR1-HH基因型可能是导致癫痫患儿红细胞免疫功能低下的危险因素之一。更多还原

【Abstract】 Objective:To study the relationship between erythrocyte complement receptor 1(ECR1) genomic density polymorphism and erythrocyte immune function in epilepsy children, trying to reveal the possible genetic mechanisms underlying erythrocyte immunological disfunction in epileptic children.Methods:Sixty children initially diagnosed as epilepsy and 60 normal controls for general health examination in pediatric outpatient in our hospital were enrolled from April 2010 to August 2010. Erythrocyte C3b receptor rosette rate and RBC immune complex rosette rate were conducted to test the immune function of red blood cell adhesion function. The CR1 genomic density polymorphism of erythrocyte from the two groups was detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (PCR-RFLP) using HindⅢrestriction enzyme.Results:(1)The ratio of RBC-C3bRR% and RBC-ICR% were significant lower in epilepsy than in normal controls (P<0.01). However, there was no difference of red cell immune function between children with generalized seizures and those with partial seizures. Similarly, no significant influence on red cell immune function by gender was found. (2) The ECR1 genotype frequencies of HH, HL, and LL were 71.7%、21.7% and 6.6% in epilepsy group, and were 75.0%、15.0% and 10.0% in control group, respectively. There were no significant difference of ECR1 genotype frequency and allele frequency between epilepsy group and the controls. The frequency of HL genotype was higher in generalized seizures subgroup than that of partial seizures subgroup (P<0.05), although there was no difference of the HH and LL genotype frequency between them. The frequencies of H or L allele in ECR1 gene were similar in different types of seizure subgroup. There were no differences of the frequencies of genotype and H/L allele between different genders in epilepsy group. (3) Compared the number of red blood cell immune rosette within and among groups of different ECR1 genotypes: The ratio of RBC-C3bRR% and RBC-ICR% were significant decreased in epileptic children with HH genotype of ECR1 than controls with the same ECR1 genotype (P<0.01). The rate of RBC-C3bRR% was decreased in epileptic children carried HL/LL genotype of ECR1 than controls with the same genotype (P<0.05) and there was no difference of RBC-ICR% rate between them. There was no difference of RBC-C3bRR% rate between HH and HL/LL genotype within epilepsy group. The RBC-ICR% rate of epileptic children carried HH genotype was decreased than those carried HL/LL genotype in epilepsy group (P<0.01). There was no significant difference of the ratio of RBC-C3bRR% and RBC-ICR% children with HH genotype and those with HL/LL genotypes within control group.Conclusion:1,Erythrocyte immune function is decreased in childhood epilepsy, indicating that some mechanisms related to red blood cell immunity may implicate in epileptic pathogenesis. 2,ECR1-HH genotype maybe one of the risk factors which facilitate erythrocyte immune disfunction under epileptic condition.更多还原