151个精神分裂症家系中多巴胺D3受体基因Ser9Gly多态的.DOCVIP

临床医学论文-151个精神分裂症家系中多巴胺D3受体基因Ser9Gly多态的 ［摘　要］ 目的: 探讨多巴胺D3受体基因(DRD 3)第一外显子Ser9Gly多态性与精神分裂症的关系。方法:采集151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=0.005 3，OR=1.70，95%置信区间为1.15～2.52)。(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。［关键词］ 精神分裂症/遗传学；受体，多巴胺；多态现象；外显子［中图分类号］ R749.3　　［文献标识码］ A［文章编号］ 1000-1530（2000）05-0455-03Disequilibrium transmission of Ser9Gly polymorphism of Do pamine D3 receptor gene in 151 schizophrenia familiesZHOU Ru-Lun　HU Xian-Zhang　ZHOU Chao-Feng　HAN Yong-Hua　CHEN Chang-Hui　WANG Yu-Feng　SHEN Yu-Cun（Peking University Institute of Mental Health, Beijing　100083, China）ABSTRACT　Objective: To investigate the asso ciation between Ser9Gly polymorphism of dopamine D3 receptor gene (DRD3) and schizophrenia. M etho ds: The Ser9Gly polymorphism of DRD3 was tested in 151 Chinese Hans pe digrees 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 o r genotypes of DRD3 Ser9Gly polymorphism are not significantly different between the groups of paren ts, unaffected-siblings and affected-siblings, and between the sub-types of schi zophrenia. (2) The transmission disequilibrium test (TDT) shows the transmission disequilib rium in affected-siblings (χ2 = 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 res ults show that schizophrenia siblings with Ser9 allele are apt to have negative symptoms. Conclusion: The results show that there may exist assoc iation between DRD3 and schizophrenia. This research supports that DRD3 may be one of the