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ABCB1基因多态性与难治性癫痫
引用本文:董琳,俞丹,毛萌.ABCB1基因多态性与难治性癫痫[J].生命的化学,2010(1).
作者姓名:董琳  俞丹  毛萌
作者单位:四川大学华西第二医院儿科;四川大学华西第二医院发育与疾病实验室;
基金项目:国家青年自然科学基金项目(2008-30700908)资助
摘    要:近年来,难治性癫痫的病因与多药耐药基因以及多药耐药基因与抗癫痫治疗的因果关系越来越受到关注。P糖蛋白(P-glycopretein,P-gp)是由ATP结合盒B亚家族成员1转运蛋白基因(ATP-binding cassette subfamily B member 1 transporter gene,ABCB1)编码的产物。它不仅可以限制抗癫痫药物(antiepileptic drug,AED)的消化道吸收,而且可以在细胞和亚细胞水平调控药物在中枢神经系统的运输过程。除了生理和环境因素的影响,P-gp的功能和表达的变化可能主要取决于ABCB1基因的多态性,这是目前研究得最广泛、最深入的多药耐药机制。本文就目前ABCB1基因多态性与难治性癫痫的相关性研究进展作一综述。

关 键 词:ATP结合盒亚科B运载体1基因(ABCB1)  P糖蛋白(P-gp)  基因多态性  单核苷酸多态性  难治性癫痫  抗癫痫药物(AED)  

Association between intractable epilepsy and polymorphism in ABCB1 gene
Lin Dong ,Dan Yu,Meng Mao.Association between intractable epilepsy and polymorphism in ABCB1 gene[J].Chemistry of Life,2010(1).
Authors:Lin Dong  Dan Yu  Meng Mao
Institution:Lin Dong 1,Dan Yu2,Meng Mao1,2 1Department of Pediatrics,West China Second University Hospital,Sichuan University,Chengdu 610041,China,2Laboratory of Child development , Diseases
Abstract:In recent years,the association between the intractable epilepsy etiology,the therapeutic effects of intractable epilepsy and the polymorphisms of ATP-binding cassette subfamily B member 1 transporter gene (ABCB1) has been of great concern.P-glycoprotein (P-gp) is the encoding protein of the ABCB1 gene.P-gp not only plays a role in drug-resistant epilepsy by limiting gastrointestinal absorption and brain access of antiepileptic drug (AED),but also regulates and controls drug transportation process in centra...
Keywords:ATP-binding cassette subfamily B member 1 transporter (ABCB1)  P-glycoprotein (P-gp)  gene polymorphism  single nucleotide polymorphism  intractable epilepsy  antiepileptic drugs  
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