Objective To investigate the polymorphisms of rs4906902 and rs8179184 loci in the promoter of the gamma-aminobutyric acid(GABA) receptor A, β3 subunit gene(GABRB3), and their relevance with schizophrenia. Methods PCR and DNA sequencing were used to detect the polymorphisms of rs4906902 and rs8179184 loci in 210 healthy individuals (control group) and 206 schizophrenic patients (case group) of the Han population in northern China. The x2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution in the control group followed by comparing differences in genotype and haplotype frequency distributions between two groups. Results Distributions of the genotype frequencies fit the law of Hardy-Weinberg equilibrium in the control group. rs4906902 and rs8179184 loci were in linkage disequilibrium and showed two haplotypes which were T-G and C-A. The differences of genotypic frequencies and haplotype frequencies were statistically significant between the two groups (P<0.05). The frequency of haplotype C-A in the case group was significantly higher than in the control group. Genotypic and haplotype frequencies in the maternal line and paternal line were statistically significant in the case group (P< 0.05). Conclusion The haplotype of C-A in rs4906902 and rs8179184 loci in the promoter of GABRB3 gene may be maternally inherited and positively associated with schizophrenia and may be a useful tool in the forensic identification of schizophrenia.%目的 探讨γ-氨基丁酸(gamma-aminobutyric acid,GABA)A受体β3亚基(GABRB3)基因启动子区两个单核苷酸多态性位点rs4906902和rs8179184遗传多态性与精神分裂症的相关性.方法 采用PCR和DNA测序方法对中国北方汉族210例健康个体(对照组)及206例精神分裂症患者(患者组)的rs4906902和rs8179184位点多态性进行检测.采用x2检验对照组人群中基因型分布是否符合Hardy-Weinberg平衡定律,并比较两组人群中基因型和单倍型频率分布的差异.结果 对照组基因型频率分布符合HardyWeinberg平衡定律,rs4906902和rs8179184位点紧密连锁,表现为两种单倍型:T-G和C-A.患者组与对照组基因型和单倍型分布频率差异有统计学意义(P＜0.05).患者组单倍型C-A的频率明显高于对照组,母系家族史与父系家族史基因型和单倍型分布的频率差异有统计学意义(P＜0.05).结论 GABRB3基因启动子区rs4906902和rs8179184位点单倍型C-A可能与精神分裂症存在相关性,并有母系遗传倾向,可为精神分裂症司法鉴定提供参考.
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