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目的了解多药耐药基因1(MDR1)C3435T 多态性在癫癎患者分布特点,探讨其与患者耐药的相关性。方法用常规酚-氯仿法提取72例癫癎药物治疗耐药患者和62例癫癎药物治疗有效患者的外周血 DNA,应用 PCR-RFLP 方法检测其 MDR1基因外显子26(exon 26)C3435T 的多态性。结果患者的 MDR1 3435位点存在3种基因型,野生型 CC、杂合突变型 CT 和纯合突变型 TT 在134例癫痫患者中分布频率分别为24.63%、53.73%和21.64%。TT 基因型在耐药患者组和药物有效组中分别为18.1%和25.8%,CT 基因型分别为48.6%和59.7%,差异均无统计学意义(P=0.277和P=0.200)。CC 基因型在耐药患者组中的频率为33.3%,在药物有效组为14.5%,两者比较差异有统计学意义(P=0.012)。等位基因 C 和 T 在癫癎人群中分布频率为51.5%和48.5%,其中 C 等位基因在耐药组的频率(57.6%)明显高于药物有效组(44.4%);相反,T 等位基因在药物有效组的频率(55.6%)分布要高于耐药组(42.3%,P=0.03)。结论 MDRI 基因多态性分布中,CC 基因型、C等位基因可能与癫癎耐药有关。癫癎治疗有效可能与 TT 基因型、T 等位基因有相关趋势。
Objective To investigate the distribution of multidrug resistance gene 1 (MDR1) C3435T polymorphism in patients with epilepsy and explore its relationship with drug resistance in patients. Methods The peripheral blood DNA of 72 patients with drug-resistant epilepsy and 62 patients with epilepsy were extracted by conventional phenol-chloroform method. The expression of MDR1 gene exon 26 C3435T was detected by PCR-RFLP. Polymorphism. Results There were 3 genotypes in MDR13435 locus. The frequencies of wild-type CC, heterozygous mutant CT and homozygous mutant TT in 134 epilepsy patients were 24.63%, 53.73% and 21.64%, respectively. The TT genotype was 18.1% and 25.8% respectively in drug-resistant patients and drug-effective patients, and the CT genotypes were 48.6% and 59.7% respectively, with no significant difference (P = 0.277 and P = 0.200). The frequency of CC genotype was 33.3% in drug resistant patients group and 14.5% in drug effective patients group, the difference was statistically significant (P = 0.012). The frequency of allele C and T in epileptic population was 51.5% and 48.5%, and the frequency of C allele in drug-resistant group (57.6%) was significantly higher than that in drug-effective group (44.4%); on the contrary, T The frequency of the bit gene in the drug-effective group (55.6%) was higher than that in the drug-resistant group (42.3%, P = 0.03). Conclusion In the distribution of MDRI polymorphisms, CC genotype and C allele may be related to epilepsy resistance. Epilepsy treatment may be effective TT genotype, T allele trends.