儿童难治性癫痫与MDR1基因C3435T多态性的相关性

Association of a polymorphism in MDR1C3435T with intractable epilepsy of children

目的探讨汉族儿童难治性癫痫与多药耐药基因(MDR1基因)C3435T多态性之间的相关性。方法采用多聚合酶链反应扩增后继以限制性内切酶片断长度多态性分析,测定120例汉族儿童(包括难治性癫痫患儿40例、疗效良好癫痫患儿40例、正常对照儿童40例)MDR1基因C3435T位点的基因型频率和等位基因频率,并进行统计分析。结果全部儿童基因型频率和等位基因频率的分布符合Hardy-weinberg平衡,具有群体代表性。3组之间CC、CT、TT基因型的差异无统计学意义(χ2=3.584,P=0.465);3组之间T和C等位基因频率的差异也无统计学意义(χ2=3.822,P=0.172)。结论本研究结果未能证实汉族儿童难治性癫痫与MDR1基因C3435T位点多态性之间存在相关性。

Objective This study attempted to replicated this finding by examining the association of MDR1C3435T polymorphism with intractable epilepsy in ethnic Han Chinese Children. Methods Eighty ethnic Han Chinese Children with epilepsy were classified into two groups based on the response to antipileptic drug ：the intractable epilepsy group and the drug-responsive group, and forty health children are as the control group. DNA samples were obtained form these children. Genotypes of the MDR1C3435T polymorphism were determined by traditional polywerase chain reaction followed by restriction digestion （PCR-RELP）.Allele frequencies were compared between populations were compared by means of the Hardy-Weinberg test.Correction for genetic stratification was undertaken with use of the spss 11.0 software.All reported P values are two-sided;a P value of less than 0.05 was considered to indicate statistical significance. Results The genotype frequencies of all cases are：CC 40,CT59,TT21,and the genotype frequencies complied well with the Hardy-Weinberg equilibrium.2,The x2 test was employed to evaluate the difference of CC,CT,TT among these groups,there were no significant difference among the three groups （X ^2=3.584,P=0.465）;To evaluate the difference of C and T among these groups,there were no significant difference either （X^ 2=3.822,P=0.172）. Conclusion The results could not prove there was significant correlation between intractable epilepsy in ethnic Han Chinese Children and the polymorphism of MDR1 C3435T.