多巴胺D_3受体基因多态性与精神分裂症临床表型

目的：探讨多巴胺D3受体（DRD3）基因多态性与精神分裂症临床表型的关系。方法：对73个精神分裂症核心家系83例精神分裂症患者（患者组）及其146名父母（父母组）应用聚合酶链反应、限制性内切酶消化方法、琼脂糖凝胶电泳结合紫外凝胶成像系统检测DRD3基因中的3个位点（Ser9Gly、Ala38Thr和-205A/G）的多态性;采用阳性与阴性症状量表（PANSS）评定精神分裂症临床表型。结果：两组DRD3基因中3个位点的基因型分布及等位基因的频率分布差异无显著性;但在患者组中,对Ser9Gly位点3种基因型（Ser9Ser、Ser9Gly和Gly9Gly）进行分组比较时,Gly9Gly组的PANSS抑郁因子评分明显高于Ser9Ser组和Ser9Gly组,3组间比较,差异有显著性（P=0.042）。对Ala38Thr位点3种基因型（Ala38Ala、Ala38Thr和Thr38Thr）进行分组比较,PANSS总分及各因子分在Ala38Ala、Ala38Thr和Thr38Thr组间差异均无显著性。对-205A/G位点3种基因型（A/A、A/G和G/G）进行分组比较,G/G组的PANSS反应缺乏因子评分明显高于A/A组和A/G组,3组间比较,差异有显著性（P=0.048）。结论：DRD3基因变异可能与精神分裂症的病理症状有关。

A study on the association between dopamine D3 receptor gene polymorphism and schizophrenic symptoms

Objective：To explore the relationship between the dopamine D3 receptor gene polymorphism and schizophrenia symptoms. Method：83 cases of schizophrenic patients from 73 schizophrenia core pedigrees were enrolled as the study group,with their 146 parents as the control group.The technique of polymerase chain reaction and the method of restricted endonuclease digestion,agarose gel electrophoresis and ultraviolet gel imaging system were applied to test the polymorphism of three loci in DRD3 gene,namely,Ser9Gly,Ala38Thr and-205A/G.The positive and negative syndrome scale （PANSS） was adopted to evaluate clinical phenotypes in schizophrenic patients. Results：The differences of genotype distribution and allele frequency distribution of the three loci of dopamine D3 receptor gene of the two groups were not statistically significant.But in the study group,Comparison of the three genotypes （Ser9Ser,Ser9Gly and Gly9Gly） of the Ser9Gly locus revealed that depression factor scores in the PANSS scale of the Gly9Gly genotype were obviously higher than those of the other two groups.A remarked difference was found in depression factor scores among the three genotypes （P=0.042）.Groups were divided according to the three genotypes （Ala38Ala,Ala38Thr and Thr38Thr） of the Ala38Thr locus,and no significant difference was found in the total scores and other factor scores in the PANSS between the three genotypes.Comparison of the three genotypes （A/A,A/G and G/G） of the-205A/G locus revealed that lacking reaction factor scores in the PANSS scale of the G/G genotype were obviously higher than those of the other two groups,and that a significant difference was found of lacking reaction factor scores among the three genotypes （P=0.048）. Conclusion：The DRD3 genovariation may have relations with pathological syndromes in schizophrenic patients.