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目的探讨ABCB1基因C1236T单核苷酸多态性在中国儿童中的分布及其与抗癫药物反应性的关系。方法研究对象180例,包括健康对照组80例和癫组100例。根据患儿对抗癫药物的反应性将癫组分为耐药组(49例)和药物反应良好组(51例)。提取所有研究对象外周血基因组DNA,采用PCR扩增后继以限制性内切酶片段长度多态性(RFLP)鉴定ABCB1基因12号外显子C1236T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。结果各组儿童ABCB1基因C1236T基因型频率的分布符合Hardy-Weinberg平衡,提示其来自同一孟德尔群体。健康对照组与药物反应良好组及耐药组,药物反应良好组与耐药组间基因型频率比较,差异均无统计学意义(Pa>0.05)。健康对照组与药物反应良好组及耐药组,药物反应良好组与耐药组间等位基因频率比较,差异亦无统计学意义(Pa>0.05)。结论本研究结果未能显示ABCB1基因C1236T位点多态性分布与小儿癫对药物治疗反应的表型之间存在相关性。
Objective To investigate the distribution of C1236T single nucleotide polymorphism of ABCB1 gene in Chinese children and its relationship with the anti-epileptic drug reactivity. Methods 180 cases were studied, including 80 cases of healthy control group and 100 cases of epilepsy group. According to the response of children to antiepileptic drugs, epilepsy was divided into drug-resistant group (49 cases) and drug-responsive group (51 cases). Peripheral blood genomic DNA was extracted from all the subjects, and the C1236T polymorphism of exon 12 of ABCB1 gene was identified by PCR amplification followed by restriction fragment length polymorphism (RFLP). The genotype frequency and allele frequency were determined and analyzed statistically. Results The frequencies of C1236T genotypes in ABCB1 gene of children in each group were in accordance with Hardy-Weinberg equilibrium, suggesting that they were from the same Mendelian population. There was no significant difference in genotype frequencies between healthy control group and drug-resistant group and drug-resistant group, drug-responsive group and drug-resistant group (Pa> 0.05). There was no significant difference in allele frequency between healthy control group and drug-resistant group and drug-resistant group, drug-reactive group and drug-resistant group (Pa> 0.05). Conclusion The results of this study failed to show a correlation between the C1236T polymorphism distribution of ABCB1 gene and the phenotype of pediatric epilepsy response to drug therapy.