GABRB2基因启动子区单核苷酸多态性与精神分裂症的关联

发布时间：2018-03-11 20:36

  本文选题：精神分裂症　切入点：GABRB基因　出处：《南方医科大学学报》2015年02期 　论文类型：期刊论文

【摘要】：目的精神分裂症是一种多基因遗传性重型精神病。我们前期工作已经发现γ-氨基丁酸(GABA)A型受体β2亚基基因(GABRB2)内含子8和9内多个单核苷酸多态性(SNPs)与精神分裂症相关。本项研究探GABRB2基因启动子区的多态性与精神分裂症的相关性。方法采用特异性PCR引物扩增GABRB2基因启动子区(包含多个SNPs),并采用Sanger DNA测法对扩增的PCR产物进行序列测定,以获得待检SNPs的基因型;采用SHEsis软件进行Hardy-Weinberg平衡分析和SPSS软件进行SNPs基因型和等位基因频率在对照组和疾病组之间的差异分析。结果对172例精神分裂症患者和167例正常人对照分析结果发现rs3811996与疾病显著相关:其杂合基因型(A/G)频率在疾病组显著低于对照组;在男性样本中,其A/G基因型和次要等位基因G频率均显著低于对照组。结论本项研究表明GABRB2基因启动子区SNP rs3811996可能为男性偏执型精神分裂症的保护因子,支持了GABRB2基因对精神分裂症的易感性。
[Abstract]:Objective schizophrenia is a multigene hereditary severe psychosis. We have identified multiple single nucleotide polymorphisms (SNPs) and schizophrenia in introns 8 and 9 of GABA A receptor 尾 2 subunit gene GABRB2. Methods specific PCR primers were used to amplify the promoter region of GABRB2 gene (including multiple SNPs), and the amplified PCR products were sequenced by Sanger DNA assay. To obtain the genotype of SNPs to be tested; SHEsis software was used to analyze Hardy-Weinberg balance and SPSS software was used to analyze the difference of SNPs genotype and allele frequency between control group and disease group. Results 172 schizophrenic patients and 167 normal controls were analyzed. There was a significant correlation between rs3811996 and disease: the frequency of heterozygous genotype A / G was significantly lower in the disease group than in the control group. The frequencies of Ar / G genotype and minor allele G in male samples were significantly lower than those in control group. Conclusion this study suggests that SNP rs3811996 in the promoter region of GABRB2 gene may be a protective factor for male paranoid schizophrenia. It supports the susceptibility of GABRB2 gene to schizophrenia.
【作者单位】： 南方医科大学基础医学院遗传学教研室;广州市第一人民医院精神心理科;广州医科大学附属第二医院;
【基金】：国家自然科学基金(81371475) 广东省自然科学基金(S2012010009664) 广东省教育厅人才启动基金(2050205) 高等学校博士学科点专项科研基金(20124433120026)~~
【分类号】：R749.3
，

本文编号：1599798