神经系统疾病专栏

多药耐药基因1 的C3435T、T129C 多态性与儿童难治性癫痫的相关性

  • 高丽 ,
  • 侯巧芳 ,
  • 刘艳萍 ,
  • 杨柳 ,
  • 孙艳 ,
  • 郑斐洋 ,
  • 李岩 ,
  • 王艳 ,
  • 马远宁
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收稿日期: 2014-11-15

  网络出版日期: 2014-11-15

Association of MDR1 gene C3435T and T129C polymorphism in childhood refractory epilepsy

  • GAO Li ,
  • HOU Qiaofang ,
  • LIU Yanping ,
  • YANG Liu ,
  • SUN Yan ,
  • ZHENG Feiyang ,
  • LI Yan ,
  • WANG Yan ,
  • MA Yuanning
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  • 1. Henan Provincial People’s Hospital of Pediatrics, Zhengzhou, 450003; 2. Henan Provincial People’s Hospital,The Institute of Medical Genetics, Zhengzhou, 450003;3. University of CA Irvine Biological Science, Irvine,California, USA, CA92604

Received date: 2014-11-15

  Online published: 2014-11-15

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。

本文引用格式

高丽 , 侯巧芳 , 刘艳萍 , 杨柳 , 孙艳 , 郑斐洋 , 李岩 , 王艳 , 马远宁 . 多药耐药基因1 的C3435T、T129C 多态性与儿童难治性癫痫的相关性[J]. 临床儿科杂志, 2014 , 32(11) : 1008 . DOI: 10.3969 j.issn.1000-3606.2014.11.003

Abstract

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 drugresponsive 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 significant 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 drugresponsive patients and the normal control group (P<0.05). Conclusions T129C polymorphism of the MDR1 gene was associated with refractory epilepsy in children.

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