关键词: 癫痫;多药耐药基因；单核苷酸多态性；关联反应

Abstract:

Objective To determine the frequency of polymorphism at C1236T of multidrug resistance 1 gene (MDR1) in epileptic patients and explore the association of this polymorphism with antiepileptic drug treatment． Methods  DNA samples were obtained from 158 patients， of whom 70 were resistant to antiepileptic drug treatment and 88 were responsive to the treatment． Genotypes of the C1236T polymorphism were determined by polymerase chain reaction(PCR)followed by restriction fragment length polymorphism (RFLP)． Allele frequencies in the drug resistant group were compared with those in the response group by Chisquare analysis． Results Of 158 patients， 30(19.4％ )had the CC genotype， 49(30.6％)had the CT genotype，and 79(50.0％ )had the TT genotype． Frequency of CC genotype was significantly higher in the pharmacoresistance group(22.9％ )than in the responsive group(15.9％), and frequency of the C allele was also higher in the pharmacoresistance group (36.4％) than in the responsive group(33.0％)． But there were no significant differences in both genotype frequency and allele frequency between the two groups. Conclusion There is no association between the locus of C1236T in the MDRI gene and response to antiepileptic drug treatment in Chinese patients with epilepsy．

Key words: Epilepsy； Multidrug resistance gene； Polymorphism; Association