| CYP3A4基因多态性与汉族小儿耐药性癫痫的关系 |
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| 引用本文： | 李艳梅,王刚,黄志,吴惧. CYP3A4基因多态性与汉族小儿耐药性癫痫的关系[J]. 中国新药与临床杂志, 2011, 0(10) |
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| 作者姓名： | 李艳梅 王刚 黄志 吴惧 |
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| 作者单位： | 重庆医科大学附属儿童医院儿童发育疾病研究省部共建教育部重点实验室儿科学重庆市重点实验室CSTC2009CA5002重庆市(儿童发育重大疾病诊治与预防)国际科技合作基地;成都市儿童医院神经内科; |
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| 基金项目： | 重庆市卫生局医学科学技术研究项目(2009-2-254) |
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| 摘 要： | 目的探讨耐药性癫痫的汉族儿童CYP3A4*18A、CYP3A4*1G与癫痫耐药的相关性。方法应用聚合酶链反应-限制性片段长度多态性技术,共检测西南地区238例儿童的CYP3A4*18A、CYP3A4*1G基因型频率和等位基因频率,其中耐药性癫痫(耐药组)83例、抗癫痫药物治疗有效(有效组)87例、健康儿童(正常组)68例。结果 CYP3A4*1G野生纯合子频率在耐药组、有效组、正常组分别为47%、45%、50%,突变杂合子频率分别为46%、49%、43%,突变纯合子频率为7%、6%、7%;等位基因野生型频率分别为70%、70%、71%,突变型频率分别为30%、30%、29%。3组基因型频率及等位基因频率差异均无显著意义(P>0.05)。CYP3A4*18A在耐药组中分布野生纯合子93%、突变杂合子7%,等位基因野生型96%、突变型4%;有效组、正常组野生纯合子100%,未发现突变。耐药组CYP3A4*18A多态性的突变杂合子基因型频率及突变型等位基因频率高于有效组,差异有显著意义(P<0.05),耐药组与正常组基因型频率及等位基因频率比较,差异无显著意义(P>0.05)。结论西南地区汉族儿童CYP3A4*18A基因多态性可能与癫痫耐药存在相关性,CYP3A4*1G基因多态性与癫痫耐药可能无相关性。检测CYP3A4*18A基因型也许是选择有效抗癫痫药物的方法之一。
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| 关 键 词： | 儿童 癫痫 耐药性癫痫 CYP3A4 多态性,单核苷酸 |
Relationship between single nucleotide polymorphisms of CYP3A4 and drug resistant epilepsy in Han Chinese children |
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| LI Yan-mei,WANG Gang,HUANG Zhi,WU Ju. Relationship between single nucleotide polymorphisms of CYP3A4 and drug resistant epilepsy in Han Chinese children[J]. Chinese Journal of New Drugs and Clinical Remedies, 2011, 0(10) |
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| Authors: | LI Yan-mei WANG Gang HUANG Zhi WU Ju |
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| Affiliation: | LI Yan-mei1,WANG Gang1,HUANG Zhi1,WU Ju2(1.Ministry of Education Key Laboratory of Child Development and Disorders,Key Laboratory of Pediatrics in Chongqing,CSTC2009CA5002,Chongqing International Science and Technology Cooperation Center for Child Development and Disorders,Children's Hospital of Chongqing Medical University,CHONGQING 400014,China,2.Department of Neurology,Children's Hospital of Chengdu,Chengdu SICHUAN 610017,China) |
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| Abstract: | AIM To investigate the relationship between single nucleotide polymorphisms(SNPs)of CYP3A4(CYP3A4*18A,CYP3A4*1G)and drug resistance epilepsy in Han Chinese children.METHODS Total 238 children were collected,83 children with drug-resistant epilepsy(resistance group),87 children with drug effective epilepsy(effective group)and 68 normal control children(control group).Two single nucleotide polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method.The dis... |
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| Keywords: | children epilepsy drug resistance epilepsy CYP3A4 polymorphism single nucleotide |
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