ABCB_1基因C3435T多态性与耐药性癫痫的关系

目的：探讨中国粤西地区汉族人群ABCB1基因C3435T（rs1045642）的单核苷酸多态性与耐药性癫痫的关系。方法：研究对象128例,包括正常对照组60例和癫痫组68例。根据患者对抗癫痫药物的反应性将癫痫组分为耐药组（30例）和药物敏感组（38例）。提取所有研究对象外周血基因组DNA,采用PCR扩增后基因测序鉴定ABCB1基因C3435T多态性。测定该位点基因型频率和等位基因频率,并进行统计学分析。结果：各组ABCB1基因C3435T基因型频率的分布符合Hardy-Weinburg平衡,提示其来自同一孟德尔群体。正常对照组与药物敏感组及耐药组,药物敏感组与耐药组间基因型频率比较,差异均无统计学意义（P〉0.05）。正常对照组与药物敏感组及耐药组,药物敏感组与耐药组间等位基因型频率比较,差异亦无统计学意义（P〉0.05）。结论：本研究结果初步证实ABCB1基因C3435T位点多态性分布与耐药性癫痫之间无相关性。

The Relationship between ABCB_1-C3435T Polymorphism and Drug-resistant Epilepsy

Objective： To investigate the relationship between drug-resistant epilepsy and ABCB~-C3435T polymorphism in Han population of the Western Guangdong province in China. Methods： 68 patients with epilepsy were classified into drug-resistant group （n = 30 ） and drug-responsive group （n= 38 ）, according to their responses of antiepileptic drug treatment, and 60 healthy controls were chosen as healthy control group. DNA samples were obtained from all these people. Genotype was determined by gene sequencing after amplified by polymerase chain reaction （PCR）. The frequency of genotypes and alleles of the three groups were compared by using Chi-square test. Results： Of the three groups, the genotype frequencies conformed well to the Hardy-Weinberg equilibrium. The difference of C3435T polymorphism among the three groups was analyzed by employing Chi-square test, and there was no significant difference in genotype frequency and allele frequency between any two of the three groups. Conclusion： The results could not prove that there is correlation between the locus of C3435T in the ABCB~ gene and response of antiepileptic drug treatment in Han population of the Western Guangdong province in China with drug-resistant epilepsy.