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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。
Objective: To investigate the association between single nucleotide polymorphism of ABCB1 gene C3435T (rs1045642) and drug-resistant epilepsy in Han population of western Guangdong. Methods: A total of 128 subjects were included, including 60 normal controls and 68 epilepsy patients. Epilepsy was divided into drug-resistant group (30 cases) and drug-sensitive group (38 cases) according to patients’ response to antiepileptic drugs. Peripheral blood genomic DNA was extracted from all the subjects and the C3435T polymorphism of ABCB1 gene was identified by PCR. The genotype frequency and allele frequency were determined and analyzed statistically. Results: Distribution of C3435T genotype frequency of ABCB1 gene in each group was in accordance with Hardy-Weinburg equilibrium, suggesting that it was from the same Mendelian population. There was no significant difference in genotype frequency between normal control group, drug-sensitive group and drug-resistant group, drug-sensitive group and drug-resistant group (P> 0.05). There was no significant difference in allele frequencies between the normal control group and the drug sensitive group and the drug resistant group, the drug sensitive group and the drug resistant group (P> 0.05). Conclusion: The results of this study preliminary confirmed ABCB1 gene C3435T polymorphism distribution and no relationship between drug-resistant epilepsy.