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目的研究ATP结合盒B亚家族成员1转运蛋白(ABCB1)基因的遗传多态性与脑脊液、血苯妥英钠浓度及其比值的关联性。方法依赖高效液相色谱法(HPLC)测定200例癫痫患者的脑脊液、血苯妥英钠浓度以及依靠PCR-RFLR法分析患者的ABCB1 C1236T、ABCB1 C3435T和ABCB1 G2677T/A三个单碱基突变位点。多组间统计数据比较采用单因素方差分析。结果在ABCB1基因三个突变位点的各自基因型中,均未发现血浆苯妥英钠浓度、脑脊液苯妥英钠浓度以及两者比值具有统计学差异(P>0.05)。结论脑脊液、血清苯妥英钠浓度及其比值未发现与ABCB1基因的多态性相关。
Objective To investigate the association between genetic polymorphisms of ABCB1 gene in ATP binding cassette B subfamily and cerebrospinal fluid (CSF), HPH concentration and its ratio. Methods The CSF and HPH concentrations in 200 patients with epilepsy were measured by HPLC. The three single-base mutation sites of ABCB1 C1236T, ABCB1 C3435T and ABCB1 G2677T / A were analyzed by PCR-RFLR. Multiple sets of statistical data were compared using one-way analysis of variance. Results There was no significant difference in plasma phenytoin sodium concentration, cerebrospinal fluid phenytoin sodium concentration and the ratio of the two among the three genotypes of ABCB1 (P> 0.05). Conclusions The concentrations and ratios of phenytoin in cerebrospinal fluid and serum were not correlated with the polymorphisms of ABCB1 gene.