多巴胺D4受体基因启动子区多态性与精神分裂症的相关性

Association between Polymorphism in Promoter Region of Dopamine D4 Receptor Gene and Schizophrenia

目的:探讨多巴胺D4受体(Dopamine D4 receptor,DRD4)基因启动子区的3个功能多态性与精神分裂症是否存在相关性。方法:严格按照诊断标准,选取无亲缘关系的精神分裂症患者220例,健康对照组200例提取基因组DNA,采用聚合酶链反应及等位基因特异性扩增技术检测DRD4基因启动子区-521C/T、-616C/G和-1240L/S3个功能位点的基因型,采用Haplo View 4.0及SPSS11.5软件分析各位点基因型、等位基因频率及组间差异。结果:DRD4基因-1240L/S的基因型及等位基因频率分布在精神分裂症与正常对照组存在显著性差异(p<0.05)。DRD4基因启动子区-521C/T和-616C/G位点的基因型及等位基因频率分布在精神分裂症组与正常对照组无统计学差异(p>0.05)。结论:DRD4基因-1240L/S多态性与精神分裂症相关联,携带有-1240L/S多态性位点L等位基因的个体可能更容易患精神分裂症。

Objective To study a possible association between the three functional polymorphisms in the promoter region of dopamine D4 receptor（DRD4）gene and schizophrenia.Methods：Genomic DNA was isolated from the venous blood leukocytes of 220 unrelated patients with schizophrenia and 200 healthy unrelated individuals（Control group）.Polymorphism of DRD4,-521C/T,-616C/G,-1240L/S,were genotyped by the allele-specific primer（ASP）PCR.Genotype and allele frequencies were analysed by HaploView 4.0 and SPSS11.5 software.Results：There were significant differences in both allele and genotype frequencies of DRD4-1240L/S between the Study and Control group（p〈0.05）.No significant differences was found in both allele and genotype frequencies of-521C/T,-616C/G between the study and control group（p〉0.05）.Conclusions：There is an association between the DRD4-1240L/S polymorphism and schizophrenia.The individuals with L allele of-1240L/S polymorphism are susceptible to heroin dependence.