多巴胺D_2受体基因启动子A-241G多态性在精神分裂症家系中的连锁不平衡传递  

Association between A-241G polymorphism of dopamine D_2 receptor promoter gene and schizophrenia in Chinese

作　　者：胡宪章[1] 周儒伦[1] 周朝凤[1] 陈昌惠[1] 王玉凤[1] 韩永华[1] 沈渔邨[1] 徐希平[2] 

机构地区：[1]北京大学精神卫生研究所,北京100083 [2]美国哈佛大学公共卫生学院群体遗传项目组

出　　处：《北京医科大学学报》2000年第6期551-554,共4页Journal of Peking University(Health Sciences)

摘　　要：目的 :探讨多巴胺D2 受体基因 (dopamineD2 receptor,DRD2 )启动子A 2 41G多态性与精神分裂症的关系。方法 :采集 10 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患病同胞且父母存活。对DRD2启动子的A 2 41G多态性进行检测。结果 :(1)DRD2启动子的A 2 41G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 3组不同性别之间以及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亦无显著性 ;(2 )传递不平衡检验发现在患病同胞 (χ2 =0 .94,P >0 .0 5 ,OR =0 .83,95 %可信区间 0 .5 7～ 1.2 1)中未表现传递不平衡性 ,而在非患病同胞 (χ2 =6 .76 ,P <0 .0 1,OR =3 .17,95 %可信区间 0 .41～ 2 4.71)中存在传递不平衡性 ,其中 2 41A等位基因在非患病同胞中传递较多 ;(3)基因型与妄想总分、幻觉总分、思维形式障碍、情感障碍、精神性失语及症状持续时间等临床特征相关。结论 :DRD2启动子的A 2Objective: To investigate the association between A 241G polymorphism of dopamine D 2 receptor promoter gene (DRD2P) and schizophrenia. Methods: The A 241G polymorphism of DRD2P was tested in 101 Chinese Han's pedigrees where there were two or more schizophrenic siblings according to the ICD 10 criteria and at most only one of their alive parents may has the history of suffering schizophrenia. Results: (1) The distributions of alleles or genotypes of DRD2P are not significantly different between the groups of parents, non affected siblings and affected siblings, between different sex and between the sub types of schizophrenia. (2) The transmission disequilibrium test did not show the transmission disequilibrilium in affected siblings (χ 2 =0.94, P >0.05,OR= 0.83 ,95%CI 0.57 1.21) but did in non affected siblings (χ 2 =6.76, P <0.01,OR=3.17,95%CI 0.41 24.71), with the -241A allele transmitted more frequently among them. (3) It was found that there exists significant relationship between DRD2P genotypes and the scores of delusion, hallucination, thought form disorder, affective disorder, psychotic alogia and lasting time of symptoms. Conclusion: The results suggest that DRD2P may play a role in the aetiology and clinical patterns of schizophrenia.

关 键 词：精神分裂症 遗传学 多态现象 多巴胺D2受体 

分 类 号：R749.302[医药卫生—神经病学与精神病学]