【摘要】 目的 :探讨多巴胺D3 受体基因 (DRD3)第一外显子Ser9Gly多态性与精神分裂症的关系。 方法 :采集15 1个家系 ,每家有 2名或 2名以上符合ICD 10精神分裂症诊断标准的患病同胞父母存活且父母中至多只有一方有精神分裂症患病史。对DRD3基因的Ser9Gly多态性进行检测。结果 :(1)总体而言 ,DRD3基因的Ser9Gly等位基因频度和基因型频度在父母组、非患病同胞组和患病同胞组之间差异无显著性 ,在精神分裂症不同亚型之间基因型频度和等位基因频度的分布差异也没有统计学意义。 (2 )传递不平衡检验 (TDT)发现在患病同胞中存在传递不平衡 (χ2 =7.76 ,P =0 .0 0 5 3 ,OR =1.70 ,95 %置信区间为 1.15～ 2 .5 2 )。 (3)基因型与临床特征的相关分析显示 ,具有Ser9等位基因的患病同胞较多地出现阴性症状。结论 :DRD3基因的Ser9Gly多态与家族性精神分裂症相关联。研究支持DRD3作为精神分裂症的候选基因之一更多还原

【Abstract】 Objective: To investigate the association between Ser9Gly polymorphism of dopamine D 3 receptor gene (DRD3) and schizophrenia. Methods: The Ser9Gly polymorphism of DRD3 was tested in 151 Chinese Han’s pedigrees each of which had two or more affected schizophrenia siblings who fulfilled the ICD 10 criteria with the parents alive and at most only one of whose parents may have the history of suffering schizophrenia. Results: (1) Totally, the distributions of alleles or genotypes of DRD3 Ser9Gly polymorphism are not significantly different between the groups of parents, unaffected siblings and affected siblings, and between the sub types of schizophrenia. (2) The transmission disequilibrium test (TDT) shows the transmission disequilibrium in affected siblings (χ 2 = 7.76, P = 0.005 3, OR = 1.70, 95%IC: 1.15 2.52). (3) The correlation analysis was taken between genotypes and clinical status. The results show that schizophrenia siblings with Ser9 allele are apt to have negative symptoms. Conclusion: The results show that there may exist association between DRD3 and schizophrenia. This research supports that DRD3 may be one of the candidate genes of schizophrenia.更多还原