摘要
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。
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.
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2014年第11期1008-1012,共5页
Journal of Clinical Pediatrics
关键词
MDR1基因
单核苷酸多态性
难治性癫痫
儿童
multi-drug resistant 1 （gene） single nucleotide polymorphism refractory epilepsy child
