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难治性癫痫患病风险与MDR1基因tag SNPs rs3789243及rs2235046位点多态性的相关性
引用本文:凌烈锋,李璐,朱幼玲,穆燕芳,周农,董斌. 难治性癫痫患病风险与MDR1基因tag SNPs rs3789243及rs2235046位点多态性的相关性[J]. 基础医学与临床, 2011, 0(9)
作者姓名:凌烈锋  李璐  朱幼玲  穆燕芳  周农  董斌
作者单位:皖南医学院生物化学教研室;安徽医科大学第三附院神经内科;安徽医科大学第一附院神经内科;
基金项目:安徽省高校省级自然科学研究项目[KJ200913010Z]; 皖南医学院中青年科研基金[WK200928]
摘    要:目的探讨MDR1基因tag SNPs与中国汉族难治性癫痫患病风险的关系。方法安徽合肥周边地区的汉族癫痫患者164例和健康对照198例,通过传统SNP基因分型技术PCR-CTPP对MDR1基因的标签SNPs rs3789243和rs2235046进行基因分型,随机样本测序验证,并进行统计学分析。结果 SNPs rs3789243的CC基因型分布频率在癫痫病例组和正常对照组之间、难治组和对照组之间均有显著性差异(P<0.01),相对危险度分别为4.315和7.123(P<0.01);SNPs rs2235046的AA基因型分布频率在癫痫病例组和对照组之间有显著性差异(P<0.01),相对危险度为2.837(P<0.01)。结论 MDR1基因多态性rs3789243基因型CC和rs2235046基因型AA可能与癫痫的患病风险升高有关;rs3789243基因型CC可能与IE风险升高有关。

关 键 词:MDR1基因  tagSNPs  难治性癫痫  

Association of MDR1 gene tagSNPs rs3789243 and rs2235046 polymorphism with intractable epilepsy
LING Lie-feng,LI Lu,ZHU You-ling,MU Yan-fang,ZHOU Nong,DONG Bin. Association of MDR1 gene tagSNPs rs3789243 and rs2235046 polymorphism with intractable epilepsy[J]. Basic Medical Sciences and Clinics, 2011, 0(9)
Authors:LING Lie-feng  LI Lu  ZHU You-ling  MU Yan-fang  ZHOU Nong  DONG Bin
Affiliation:LING Lie-feng1,LI Lu1,ZHU You-ling2,MU Yan-fang2,ZHOU Nong3,DONG Bin2(1.Dept.of Biochemistry,Wannan Medical College,Wuhu 241001,2.Dept.of Neurology,the Third Affiliated Hospital,Anhui Medical University,Hefei 230001,3.Dept.of Neurology,the First Affiliated Hospital,Hefei 230022,China)
Abstract:Objective To investigate the relationship between polymorphisms of MDR1 gene tagSNPs and intractable epilepsy in Han Chinese population.Methods Totally 164 Han epilepsy and 198 controls living in or near Anhui Hefei were recruited in this study.Tag SNPs rs3789243 and rs2235046 were genotyped through PCR-CTPP and the same polymorphism was genotyped by DNA sequence analysis,assaying in all subjects.Results There was significant difference in genotypic CC of rs3789243 between epilepsy group and the controls,in...
Keywords:MDR1 gene  tagSNPs  intractable epilepsy  
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