难治性癫痫与多药耐药基因1C3435T多态性的相关性  

Association between the C3435T polymorphism of human multidrug resistance 1 gene and refractory epilepsy

作　　者：狄晴[1] 王凌玲[1] 许利刚[1] 余年[1] 蒋颖[1] 江炜炜[1] 孙丰[1] 葛剑青[1] 张颖冬[1] 

机构地区：[1]南京医科大学附属脑科医院神经内科,南京210029

出　　处：《中华神经医学杂志》2011年第2期127-131,共5页Chinese Journal of Neuromedicine

基　　金：南京市医学科技发展重大项目（2007-0211）

摘　　要：目的 探讨多药耐药基因1（MDR1）C3435T位点多态性与汉族难治性癫痫（RE）的关系. 方法 收集170例诊断明确、治疗合理的汉族癫痫患者,根据是否符合RE诊断标准将其分为RE组（91例）和非RE组（79例）.RE定义为：至少观察2年,按患者发作类型正确使用≥2种对该发作类型有效的抗癫痫药物,单药前、后分别使用或联合使用,仍每月发作≥1次达2年及以上者.采用多聚酶链反应限制性片段长度多态性方法检测患者外周血MDR1基因C3435T多态性. 结果 RE组CC、CT、TT基因型分别占48.4%、40.7%、11.0%,非RE组分别占40.5%、38.0%、21.5%,总体差异无统计学意义（x2=3.615,P=0.164）.RE组患者C3435T等位基因C、T频率分别为68.7%、31.3%,非RE组患者分别为59.5%、40.5%,差异也无统计学意义（x2=3.112,P=0.080）.根据病因将患者分为原发性癫痫、症状性或隐源性癫痫2组,结果示2组患者中RE亚组和非RE亚组C3435T基因型分布、等位基因频率差异均无统计学意义（P＞0.05）. 结论 本研究未发现MDR1基因C3435T多态性与汉族RE有关.Objective To clarify the relation between the C3435T polymorphism of multidrug resistance 1 （MDR1） gene and human refractory epilepsy （RE） in ethnic Han Chinese. Methods We collected 170 patients with epilepsy, whose diagnoses were correct and treatments were reasonable. RE was defined as having uncontrolled seizures that occurred with an average frequency of at least once a month for a period of at least 2 years; during the 2-years period, at least 2 different antiepileptic drugs （AEDs） were used daily, either singly or in combination. According to the definition, 91 patients were classified into RE group and the other 79 patients into non-RE group. A 5-mL venous blood sample was taken from the patients for DNA extraction and genotyping. Genotype of C3435T polymorphism in MDR1 gene was determined by polymerase chain reaction followed by restriction fragment length polymorphism （PCR-RFLP）. Results The distribution of CC, CT, TT genotypes was 48.4%, 40.7%,11.0% in RE group, and 40.5%, 38.0%, 21.5% in non-RE group, respectively; no significant differences of C3435T genotype were noted between the 2 groups （x2=3.615, P=0.164）. The C and T allele frequencies were 68.7%, 31.3% in RE group, and 59.5%, 40.5% in non-RE group, respectively; no significant differences were found between 2 groups （x2=3.112, P=0.080）. Patients were divided into primary epilepsy group and cryptogenic or symptomatic epilepsy group according to the etiology;analyses of the genotype and allele of C3435T in the sub-groups （RE and non-RE subgroups） of this 2 groups were similarly unremarkable. Conclusion No association between the C3435T polymorphism in MDR1 gene and RE in ethnic Han Chinese is noted.

关 键 词：癫痫 药物抵抗 P-糖蛋白 多药耐药基因 基因多态性 

分 类 号：R742.1[医药卫生—神经病学与精神病学]