【摘要】 目的:探讨湖北武汉地区汉族人群中多巴胺受体D2型(D2)基因启动区-141位点胞嘧啶插入/缺失(-141C Ins/Del)多态性与精神分裂症的关联及连锁关系。方法:应用聚合酶链反应-限制性片段长度多态性方法,对120名精神分裂症患者、100名健康对照者进行基因分型,进而分析精神分裂症的-141C Ins/Del多态性;对35个精神分裂症患者核心家系(患者及其生物学父母)的-141C Ins/Del进行了连锁不平衡分析。结果:多巴胺受体D2型基因启动区-141位点多态的等位基因、基因型频率在精神分裂症组与对照组之间的分布差异有显著性(P<0.05)。在精神分裂症组中,-141C缺失的等位基因频率为0.11,对照组为0.18(比值比为0.55,95%可信区间为0.30-0.96,P<0.05)。在35个核心家系中,16个患者父母的基因型为杂合子型"-141C Ins/Del",传递不平衡(TDT)分析结果显示10个传递"-141C Ins",6个传递"-141C Del"(χ2=0.71,P>0.05),提示"-141C Ins/Del"与精神分裂症之间不存在连锁关系。结论:多巴胺受体-141C Ins/Del多态性非独立性地对汉族精神分裂症与D2基因的相关性产生修饰作用,需要进一步扩大样本量探讨-141C Del对于汉族精神分裂症患者的保护性。更多还原

【Abstract】 Objective: To explore the association between a putative functional promoter polymorphism,-141C Ins/Del,in the dopamine receptor D2 gene and schizophrenia.Methods: The unrelated Han schizophrenic patients(n=120) and Han control subjects(n=100) for the same polymorphism in Wuhan of Hubei province were investigated.The transmission disequilibrium test(TDT) was done in 35 core families of these schizophrenic patients.Results: The-141C Del allele frequency was significantly lower in patients than controls(P<0.05).The frequency of-141C Del was 11% in patients and 18% in control.Sixteen cases’ parents had-141C Ins/Del genotype in the core families.By TDT analysis,10 cases’ parents passed the-141C Ins allele to their children,while 6 cases’ parents passed-141C Del allele.There was no linkage from the analysis of the 35 families’ data(P>0.05).Conclusion: The present and previous results may indicate that the-141C Ins/Del polymorphism of dopamine receptor D2 gene affects susceptibility to schizophrenia,and further studies need to be designed to explore the relationship in a larger population.更多还原