CAJ | 학술논문

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.
목적 탐토다약내약기인1(MDR1)C3435T위점다태성여한족난치성전간(RE)적관계. 방법 수집170례진단명학、치료합리적한족전간환자,근거시부부합RE진단표준장기분위RE조(91례)화비RE조(79례).RE정의위:지소관찰2년,안환자발작류형정학사용≥2충대해발작류형유효적항전간약물,단약전、후분별사용혹연합사용,잉매월발작≥1차체2년급이상자.채용다취매련반응한제성편단장도다태성방법검측환자외주혈MDR1기인C3435T다태성. 결과 RE조CC、CT、TT기인형분별점48.4%、40.7%、11.0%,비RE조분별점40.5%、38.0%、21.5%,총체차이무통계학의의(x2=3.615,P=0.164).RE조환자C3435T등위기인C、T빈솔분별위68.7%、31.3%,비RE조환자분별위59.5%、40.5%,차이야무통계학의의(x2=3.112,P=0.080).근거병인장환자분위원발성전간、증상성혹은원성전간2조,결과시2조환자중RE아조화비RE아조C3435T기인형분포、등위기인빈솔차이균무통계학의의(P＞0.05). 결론 본연구미발현MDR1기인C3435T다태성여한족RE유관.
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.