多药耐药基因-1、脑源性神经营养因子基因的两个多态性与小儿耐药性癫痫的关联研究

目的探讨多药耐药基因-1、脑源性神经营养因子(BDNF)基因的两个多态性与小儿耐药性癫痫的关联性。方法选取多药耐药基因-1的T-129C多态性、BDNF基因的C270T多态性作为研究的位点,利用聚合酶链反应—限制性片段长度多态性分析技术,在耐药性癫痫组41例患儿、药物有效癫痫组43例患儿、正常对照组30例儿童中进行这两个多态性检测,比较3组之间基因型分布及等位基因频率的差异。结果耐药性癫痫组MDR1基因T-129C多态性的TT基因型分布频率、T等位基因频率高于药物有效癫痫组及正常对照组,差异有显著性(P<0.05)。耐药性癫痫组BDNF基因C270T多态性的CC、CT、TT基因型分布频率和C、T等位基因频率与药物有效癫痫组及正常对照组差异无显著性(P>0.05)。结论MDR1基因T-129C多态性可能与小儿耐药性癫痫存在关联,在小儿耐药性癫痫的发生中可能起作用;而BDNF基因C270T多态性与小儿耐药性癫痫可能无关联。

The relationship between the single nucleotide polymorphisms of multidrug resistance gene 1,brain derived neurotrophic factor gene and childhood drug resistance epilepsy

Aim To explore the relationship of the single nucleotide polymorphisms of multidrug resistance gene 1 and brain derived neurotrophic factor(BDNF) gene to childhood drug resistance epilepsy.Methods Two single nucleotide polymorphisms,T-129C polymorphism in multidrug resistance gene 1 and C270T polymorphism in BDNF gene,were conducted with PCR-restriction fragment length polymorphism analysis.The distribution of genotypes and allele frequencies of two single nucleotide polymorphisms in childhood drug resistance epilepsy were compared to those in drug respond epilepsy and controls.Results The distribution of TT genotype and T allele frequencies of multidrug resistance gene 1 in drug resistance epilepsy differed significantly from those in drug respond epilepsy and controls(P<0.05);the distribution of CC,CT and TT genotypes and C,T allele frequencies of BDNF gene showed no significant difference between drug resistance epilepsy and drug respond epilepsy or controls(P>0.05).Conclusions The findings suggested that the T-129C polymorphism of multidrug resistance gene 1 maybe associated with childhood drug resistance epilepsy and played some role in the etiology of drug resistance epilepsy,but C270T polymorphism of BDNF gene was not confirmed to relate to childhood drug resistance epilepsy.