CAJ | 학술논문

目的：探讨多药耐药基因1(MDR1)C3435T、T129C多态性与儿童难治性癫痫之间的相关性。方法采用PCR-RFLP方法检测260例儿童，包括难治性癫痫患儿(难治组)60例、疗效良好的癫痫患儿(易治组)100例及健康儿童(对照组)100例的MDR1基因C3435T、T129C位点多态性，比较三组基因型分布和等位基因频率的差异。结果难治组、易治组与对照组的C3435T位点基因型(TT、TC、CC)分布以及等位基因(T和C)频率差异无统计学意义(P均>0.05)。三组T129C位点基因型(TT、TC、CC)分布以及等位基因(T和C)频率差异有统计学意义(P均<0.05)；其中难治组TC基因型以及等位基因C的比例均较高。结论 MDR1基因T129C多态性可能与儿童难治性癫痫存在相关性。
목적：탐토다약내약기인1(MDR1)C3435T、T129C다태성여인동난치성전간지간적상관성。방법채용PCR-RFLP방법검측260례인동，포괄난치성전간환인(난치조)60례、료효량호적전간환인(역치조)100례급건강인동(대조조)100례적MDR1기인C3435T、T129C위점다태성，비교삼조기인형분포화등위기인빈솔적차이。결과난치조、역치조여대조조적C3435T위점기인형(TT、TC、CC)분포이급등위기인(T화C)빈솔차이무통계학의의(P균>0.05)。삼조T129C위점기인형(TT、TC、CC)분포이급등위기인(T화C)빈솔차이유통계학의의(P균<0.05)；기중난치조TC기인형이급등위기인C적비례균교고。결론 MDR1기인T129C다태성가능여인동난치성전간존재상관성。
Objective To investigate the association between multi-drug resistant 1 (MDR1) gene C3435T and T129C polymorphism with refractory epilepsy in children. Methods A total of 260 children including 60 refractory epilepsy, 100 drug-responsive epilepsy, and 100 healthy children were enrolled. The genotypes for MDR1 polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of the three groups were compared. Results The distribution of TT/TC/CC genotypes and T/C allele frequencies of C3435T showed no signiifcant difference between drug-resistant patients and drug-responsive patients or normal control group (P>0.05). Drug-resistant patients were more likely to have the TC genotype and the C allele at T129C when compared with the drug-responsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.