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目的研究多药耐药基因MDR1 C1236T多态性在癫患儿中的分布特点,探讨其与癫患儿对抗癫药物反应的相关性。方法收集230例癫患儿,其中对抗癫药物不敏感患儿(总耐药组)108例和敏感患儿(总敏感组)122例;选择100例健康儿童作对照;再按癫类型和病因选取耐药组和敏感组。采用PCR扩增后继以限制性内切酶片断长度分析法分别测定各组MDR1基因C1236T位点的基因型频率和等位基因频率,然后对耐药组和敏感组基因型频率和等位基因频率进行比较。结果 1.总耐药组和总敏感组患儿基因型比较和等位基因频率比较,差异均无统计学意义。2.局限性发作癫患儿中,耐药组CC基因型频率明显高于敏感组,TT基因型频率明显低于敏感组,差异均有统计学意义;耐药组C等位基因频率明显高于敏感组,T等位基因频率明显低于敏感组,差异有统计学意义;其他基因型比较差异无统计学意义。3.全面性发作癫患儿中,耐药组与敏感组基因型频率和等位基因频率比较差异均无统计学意义。4.不能确定全面和局限发作组、耐药组与敏感组基因型频率和等位基因频率比较差异均无统计学意义。5.在症状性癫患儿中,耐药组和敏感组基因型频率和等位基因频率比较差异均无统计学意义。特发性癫或隐源性癫患儿,耐药组和敏感组基因型频率和等位基因频率比较差异均无统计学意义。结论 1.C1236T位点多态性中CC基因型和C等位基因频率高可能是局限性癫患儿发生耐药的危险因素,其他类型的癫与C1236T多态性基因型和等位基因关系不大。2.MDR1 C1236T位点多态性与不同病因的癫患者对抗癫药物的反应关系不大。
Objective To investigate the distribution of multidrug resistance gene MDR1 C1236T polymorphism in children with epilepsy and to explore the relationship between MDR1 C1236T polymorphism and epilepsy in children with epilepsy. Methods Totally 230 epileptic children were collected, of whom 108 were resistant to epilepsy-drug-insensitive children (total drug-resistant group) and 122 were sensitive children (total sensitive group); 100 healthy children were selected as controls; Type and etiology selected resistant group and sensitive group. The genotype frequency and allele frequency of C1236T site of MDR1 gene in each group were determined by PCR amplification followed by restriction fragment length analysis. The genotype frequency and allele frequency of MDR1-resistant group and sensitive group Compare. Results 1. There was no significant difference in genotypes and allele frequencies between children in total drug resistance group and total sensitive group. 2. Limitations Epileptic seizures in children with drug-resistant group CC genotype frequency was significantly higher than the sensitive group, TT genotype frequency was significantly lower than the sensitive group, the difference was statistically significant; C allele frequency of drug-resistant group was significantly Higher than the sensitive group, T allele frequency was significantly lower than the sensitive group, the difference was statistically significant; other genotypes were no significant difference. 3 comprehensive seizures in children with epilepsy, drug-resistant group and sensitive group genotype frequency and allele frequencies were no significant difference. 4. Can not determine the overall and limited attack group, drug-resistant group and sensitive group genotype frequency and allele frequency difference was not statistically significant. In the children with symptomatic epilepsy, there was no significant difference in genotype frequency and allele frequency among the drug-resistant group and the sensitive group. In idiopathic or cryptogenic epilepsy children, there was no significant difference in genotype frequency and allele frequency among drug-resistant group and sensitive group. Conclusion 1.C1236T polymorphism in the CC genotype and C allele frequency may be limited risk of epilepsy in children with drug-resistant risk factors, other types of epilepsy and C1236T polymorphism genotype and allele Genetic relationship is not big. MDR1 C1236T polymorphism in patients with different etiology of epilepsy patients has little to do with the response to epilepsy drugs.