多药耐药基因1C3435T多态性在癫痫患者中的分布及其与癫痫耐药的关系

目的研究多药耐药基因1（MDR1）C3435T多态性在癫痫患者中的分布特点,并探讨其与癫痫患者对抗癫痫药物反应的关系。方法收集的230例癫痫患者中,其中对抗癫痫药物不敏感的患者（耐药组）108例和敏感的患者（敏感组）122例,选择90例正常人作对照;再按癫痫类型和病因选取耐药组和敏感组。用多聚合酶链反应扩增后继以限制性内切酶片断长度分析法（PCR-RFLP方法）分别测定各组患者MDR1基因C3435T位点的基因型频率和等位基因频率。然后对耐药组、敏感组和对照组的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病例中的基因型比较和等位基因频率比较,差异均无统计学意义（P〉0.05）。（2）不同癫痫类型中,耐药组和敏感组基因型频率和等位基因频率比较均无统计学意义（P〉0.05）。（3）在不同病因的癫痫患者中,耐药组和敏感组病例比较,结果基因型频率和等位基因频率的差异均无统计学意义（P〉0.05）。结论无论在考虑癫痫分型和病因还是不考虑分型和病因,MDR1C3435T位点多态性与癫痫患者对抗癫痫药物的耐药性均没有关系。

Frequency of the C34357T polymorphism in MDR1 genes and association of this polymorphisms with multidrug-resistant epilepsy

Objective To determine the frequency of polymorphism at C3435T of MDR1 in epileptic patients and study the association of this polymorphism with antiepileptic drug treatment in epileptic patients. Methods Subjects were classified,of whom 108 were resistant to antiepileptic drug treatment and 122 were responsive to the treatment. Genotypes of the C3435T polymorphism were determined by polymerase chain reaction（ PCR） followed by restrictionfragment length polymorphism （ RFLP）. Genotype and allele frequencies compared between the RS and RP groups. Results In all subjects,there were no significant differences both in the genotype frequency and allele frequency between the RS and RP groups. The patients with focal seizures,there were no significant differences both in the patients with the genotype frequency and allele frequency between the two groups（ P 〉0. 05）. In the generalized seizures or unclassified epileptic seizures,there is a same results,too （ P 〉0. 05）. There were no significant difference （ P 〉0. 05） between the RS and RP groups. In symptomatic epileptic patients,in idiopathic epilepsy group or crytogenic epileptic patients,there is a same results,too （ P 〉0. 05）. Conclusions There is no association between C3435T in MDR1 gene and response to antiepileptic drug treatment in Chinese patients with different etiological epilepsy or different types epilepsy.