中文摘要：

目的：检测中国汉族癫痫患者EPHX1基因型分布特征,探讨EPHX1基因多态性与中国汉族癫痫患者服用卡马西平所致肝损伤的相关性。方法：中国汉族癫痫患者325例,卡马西平（CBZ）耐受患者200例,CBZ不良反应125例;应用聚合酶链反应（PCR）后酶切或直接测序的方法检测EPHX1基因型分布及等位基因频率。结果：中国汉族癫痫患者EPHX1基因型分布均符合H-W平衡。与CBZ耐受患者比较,CBZ不良反应患者EPHX1 T〉C（rs：1051740）突变频率显著升高（P〈0.01）EPHX1 T〉C（rs：1051740）突变是CBZ不良反应的独立危险因素。结论：EPHX1多态性与中国汉族癫痫患者服用卡马西平所致肝损伤有关。

英文摘要：

OBJECTIVE To study the frequency distribution patterns of EPHX1 polymorphisms and explore the correlation between EPHX1 polymorphisms and the susceptibility of hepatic injury induced by carbamazepine （CBZ） in Chinese Han- eth- nic epileptic patients. METI-IOBS We totally collect 325 cases of Chinese Han- ethnic epileptic patients, 200 cases with no ad- verse reactions （CBZ-tolerant group） and 125 cases with adverse reactions （CBZ-ADR group）. Polymerase chain reaction-direct sequencing or enzyme-cut methods were used to detect the genotype of EPHX1. RESULTS The distribution of genotypes and genetic frequencies of EPHX1 were all accord to H-W balances （P〉0. 05）. There was a significant difference in the distribu- tion of genotype of EPHX1 （rs： 1051740） between the groups of CBZ-tolerant and CBZ-ADR （P〈0. 05）. CONCLUSION The patients with EPHX1 T〉C （rs：1051740） might be contributed to the susceptibility of hepatic injury induced by CBZ in Chi- nese Han-ethnic epileptic patients.