The association study between polymorphism of GABBR1 gene and idiopathic generalize epilepsy

YAN Ning; et al

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The association study between polymorphism of GABBR1 gene and idiopathic generalize epilepsy

更新时间：2024-01-17

- The association study between polymorphism of GABBR1 gene and idiopathic generalize epilepsy
- Journal of Chongqing Medical University Issue 8, Pages: 805-807(2007)
- 作者机构：
  
  1. 重庆医科大学细胞生物学及遗传学教研室
  2. 重庆医科大学附属第一医院神经科
- 作者简介：
- 基金信息：
- DOI：
  CLC： R742.1
- Published：2007，
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[1]晏宁,彭惠民,晏勇.GABBR1基因多态性与特发性癫痫关联研究[J].重庆医科大学学报,2007(08):805-807+829.

YAN Ning, et al. The association study between polymorphism of GABBR1 gene and idiopathic generalize epilepsy. [J]. Journal of Chongqing Medical University (8):805-807(2007)
[1]晏宁,彭惠民,晏勇.GABBR1基因多态性与特发性癫痫关联研究[J].重庆医科大学学报,2007(08):805-807+829. DOI：

YAN Ning, et al. The association study between polymorphism of GABBR1 gene and idiopathic generalize epilepsy. [J]. Journal of Chongqing Medical University (8):805-807(2007) DOI：

摘要

目的:研究γ-氨基丁酸B1型受体（GABBR1）基因内的单核苷酸多态性（SNP）与特发性癫痫（IGE）的相关性。方法:以紧邻第7外显子两侧的rs3025627、rs3025628、rs29220的SNPs为遗传标记

对110例IGE患者及110例正常人用等位专一双向特异扩增法（Bi-PASA）进行关联分析。结果:上述3位点的SNPs基因频率在对照组符合Hardy-Weinberg平衡

rs3025627

rs3025628

rs29220SNP的杂合度分别为:0.412

0.426

0.412。rs3025627的TT突变型频率在研究组中高于对照组（P<0.05）;rs3025627的AT杂合型频率在研究组低于对照组（P<0.05）。结论:GABBR1基因内的rs3025627的突变与IGE的易感性基因存在关联。rs3025627、rs3025628、rs29220的SNPs3个位点的杂合度较高

是研究IGE有应用价值的遗传学标记。

Abstract

Objective:To investigate whether or not theγ-aminobutyric acid(GABA)receptor subtype B genes are associated with idiopathic generalize epilepsy(IGE).Methods:three single nucleotide polymorphisms(SNPs)which loci nearly exon 7 was used as genetic markers.Both case-control study as well as based on Bi-PASA technique were used in 110 with IGE and 110 controls to conduct association analysis.Results:The allele frequencies of these SNPs in Chinese normal population are in good agreement with Hardy-Weinberg equilibrium.The heterozygosity of SNP rs3025627 and rs3025628 and rs29220 are 0.412 and 0.426 and 0.412 respectively.The allele of frequency of heterozygote type of the mutation type of TT in rs3025627 are higher in IGE patients than those in normal controls(P<0.05).Conclusions:All of these SNP rs29220 and rs3025627 and rs3025628 are good genetic markers.The rs3025627 are associated with IGE

but need more samples.All of these SNP rs29220 and rs3025627 and rs3025628 are good genetic markers.

关键词

特发性癫痫GABBR单核苷酸多态性

Keywords

Idiopathic generalizeGABBRsingle nucleotide polymorphisms

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