多药耐药基因1 C1236T多态性与癫痫患者对药物反应性的相关性

Association between the C1236T polymorphism in multi-drug resistance gene 1 and response to antiepileptic drug treatment in epileptic patients

目的了解多药耐药基因1(MDR1)C1236T多态性在癫痫患者中的分布,并探讨其与癫痫患者耐药的相关性。方法选择70例难治性癫痫患者及88例对抗癫痫药物敏感的癫痫患者,提取其外周血DNA,应用多聚合酶链反应(PCR)扩增后继以限制性内切酶片断长度多态性(RFLP)分析,检测基因MDR1的第12个外显子中C1236T的多态性。结果两组病例的基因型频率和等位基因频率相比较,差异均无统计学意义(P>0.05)。结论MDR1C1236T多态性与癫痫患者对抗癫痫药物反应没有相关性。

Objective To determine the frequency of polymorphism at C1236T of muhidrug resistance 1 gene （MDR1） in epileptic patients and explore the association of this polymorphism with antiepileptic drug treatment. Methods DNA samples were obtained from 158 patients, of whom 70 were resistant to antiepileptic drug treatment and 88 were responsive to the treatment. Genotypes of the C1236T polymorphism were determined by polymerase chain reaction（PCR） followed by restriction fragment length polymorphism （RFLP）. Allele frequencies in the drug resistant group were compared with those in the response group by Chisquare analysis. Results Of 158 patients, 30（19.4% ）had the CC genotype, 49（30.6%）had the CT genotype,and 79（50. 0% ）had the TT genotype. Frequency of CC genotype was significantly higher in the pharmaco-resistance group（22.9% ）than in the responsive group（ 15.9% ）, and frequency of the C allele was also higher in the pharmaco-resistance group （36.4%） than in the responsive group（33.0% ）. But there were no significant differences in both genotype frequency and allele frequency between the two groups. Conclusion There is no association between the locus of C1236T in the MDRI gene and response to antiepileptic drug treatment in Chinese patients with epilepsy.