中文摘要：

目的：探讨ABCB1基因多态性对卡马西平血药浓度的影响。方法：采用荧光偏振免疫法（FPIA）测定275例口服卡马西平癫痫患者的血药浓度，聚合酶链式反应-限制性片段长度多态性方法（PCR-RFLP）或直接测序法检测ABCB1多态性位点C1236T、G2677T/A和C3435T的基因型。单因素方差分析计算各SNP位点不同基因型对应的卡马西平血药浓度是否有差异。结果：G2677T／A不同基因型对应的调整后血药浓度均值之间差别有显著性，TT基因型对应的调整后血药浓度显著高于GG型（P=0．001）。C1236T、C3435T各基因型对应的调整后血药浓度均值差别无统计学意义（P〉0．05）。结论：ABCB1基因SNP位点G2677T／A的基因多态性对口服卡马西平癫痫患者的血药浓度有影响，提示TT基因型的患者可适当减少药物使用剂量。

英文摘要：

OBJECTIVE To investigate the effects of ABCB1 polymorphisms on plasma carbamazepine （CBZ） concentra tions. METHODS The plasma carbamazepine concentrations were determined by FPIA in 275 epileptic patients. C1236T, G2677T/A and C3435T polymorphisms of ABCB1 were genotyped by polymerase chain reaction amplification followed by restriction fragment length polymorphism analysis or by gene sequencing. CBZ concentrations of every genotype were compared u sing one-way ANOVA. RESULTS In G2677T/A, the adjusted CBZ concentrations of the patients with TT genotype were higher than those with GG genotype （P = 0. 001 ）. However, no significant difference was observed between the polymorphisms of C1236T and C3435T and the adjusted CBZ concentrations （P〉0.05）. CONCLUSION G2677T/A polymorphism of ABCB1 is associated with different plasma CBZ levels in patients with epilepsy. Our results suggest that the patients with 2677 TT genotype should properly reduce CBZ dose.