本文選題：精神分裂癥　切入點：GABRB基因　出處：《南方醫(yī)科大學學報》2015年02期 　論文類型：期刊論文

【摘要】：目的精神分裂癥是一種多基因遺傳性重型精神病。我們前期工作已經發(fā)現γ-氨基丁酸(GABA)A型受體β2亞基基因(GABRB2)內含子8和9內多個單核苷酸多態(tài)性(SNPs)與精神分裂癥相關。本項研究探GABRB2基因啟動子區(qū)的多態(tài)性與精神分裂癥的相關性。方法采用特異性PCR引物擴增GABRB2基因啟動子區(qū)(包含多個SNPs),并采用Sanger DNA測法對擴增的PCR產物進行序列測定,以獲得待檢SNPs的基因型;采用SHEsis軟件進行Hardy-Weinberg平衡分析和SPSS軟件進行SNPs基因型和等位基因頻率在對照組和疾病組之間的差異分析。結果對172例精神分裂癥患者和167例正常人對照分析結果發(fā)現rs3811996與疾病顯著相關:其雜合基因型(A/G)頻率在疾病組顯著低于對照組;在男性樣本中,其A/G基因型和次要等位基因G頻率均顯著低于對照組。結論本項研究表明GABRB2基因啟動子區(qū)SNP rs3811996可能為男性偏執(zhí)型精神分裂癥的保護因子,支持了GABRB2基因對精神分裂癥的易感性。
[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.
【作者單位】： 南方醫(yī)科大學基礎醫(yī)學院遺傳學教研室;廣州市第一人民醫(yī)院精神心理科;廣州醫(yī)科大學附屬第二醫(yī)院;
【基金】：國家自然科學基金(81371475) 廣東省自然科學基金(S2012010009664) 廣東省教育廳人才啟動基金(2050205) 高等學校博士學科點專項科研基金(20124433120026)~~
【分類號】：R749.3
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本文編號：1599798