ABCB1基因C1236T多态性与小儿癫对药物反应的关系

Correlation between C1236T Polymorphism in ABCB1 Gene and Response of Antiepileptic Drug Treatment in Chinese Epileptic Children

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 explore the frequency of gene polymorphism in extron 12 C1236T of ATP - binding cassette subfamily B mem- ber 1 transporter（ ABCB1 ） gene on pharmacoresistance in Chinese epileptic children and to elucidate the relationship between this polymor- phism and antiepileptic drug treatment. Methods One hundred Chinese children with epilepsy were classified into drug - responsive group （ n = 51 ） and drug - resistant group （ n = 49 ）, according to their responses of antiepileptic drug treatment, and 80 healthy children were chosen as healthy control group. DNA samples were obtained from all these Chinese children. Genotype was determined by polymerase chain reaction - restriction fragment length polymorphism（ PCR - RFLP） for C1236T of ABCB1 gene. The frequency of genotypes and alleles of the 3 groups were compared by using Chi - square test. Results Of the 3 groups, the genotype frequencies conformed well to the Hardy - Weinberg equi- librium. The difference of C 1236T polymorphism among the 3 groups was analyzed by employing Chi - square test, and there was no significant difference in genotype frequency and allele frequency between any 2 of the 3 groups（ P 〉 0.05 ）. Conclusions The results could not prove there is correlation between the locus of C1236T in the ABCB1 gene and response of antiepileptic drug treatment in Chinese children with epilepsy.