【关键词】 精神分裂症
Association between DRD3 gene Ser9Gly polymorphism and schizophrenia in center families
【Abstract】 AIM: To investigate the association between the dopamine receptor D3(DRD3) gene Ser9Gly polymorphism located in the first exon and the susceptibility of schizophrenia. METHODS: The genotypes were determined by restriction fragment length polymorphism (RFLP) analysis for the above polymorphism in 124 schizophrenic hospitalized patients from October 2001 to December 2003 in our hospital and their parents. The correlation between the polymorphism of the gene and schizophrenia was investigated by transmission disequilibrium test (TDT) and haplotype relative risk test (HRR). The data were analyzed with software SPSS 11.5. RESULTS: One hundred and one out of the 124 families were examined with TDT and HRR. Disequilibrium existed in the whole samples and the male families, but did not exist in the female families. Between the 2 groups with or without the family history, no significant difference in disequilibrium was found by TDT. But with HRR, significant disequilibrium existed in the group with positive family history, while no disequilibrium was found in the other group. CONCLUSION: There is a correlation between the DRD3 gene Ser9Gly polymorphism and schizophrenia, especially for male schizophrenia. No obvious evidence shows the different disequilibrium in the groups classified by different family history.
【Keywords】 schizophrenia; receptors, dopamine; polymorphism (genetics); transmission disequilibrium test; haplotype relative risk test
【摘要】 目的： 探讨多巴胺D3受体（DRD3）基因第一外显子Ser9Gly多态性与精神分裂症易感性的关联. 方法： 对河南省精神病院200110/200312住院的124个本地汉族核心家系（精神分裂症患者及父母）采用限制性片段长度多态性技术测定基因型. 应用传递不平衡检测、单体相对危险度检测判断基因多态性与精神分裂症的关联. 结果： 在所收集的124个家系中有101可用于TDT, HRR检测，Ser9Gly多态性存在传递不平衡，Gly等位基因较多地传给下一代，这种传递不平衡存在按性别分组的男性患者家族中，而不存在女性患者家族中；按有无家族史分组，两组患者中TDT均无传递差异，HRR检测有家族史的家系有统计学差异，无家族史的家系无传递差异. 结论： DRD3受体基因第一外显子Ser9Gly多态性可能与精神分裂症易感性存在关联，且可能与男性精神分裂症关系更密切，无明显的`证据说明和家族史不同存在不同的传递差异.
【关键词】 精神分裂症；受体，多巴胺；多态现象（遗传学）；传递不平衡检测；单体相对危险度检测
0引言
多巴胺受体是多巴胺系统行使功能的重要环节，而多巴胺受体基因多态性的研究成为揭示精神分裂症病因及其它相关问题的切入口之一. 在多巴胺受体亚型内，多巴胺递质与D3受体的亲合力最高. 且随着核素医学的发展，已经能直观地看到DRD3受体主要分布在端脑、伏隔核、Collegia氏岛以及其它边缘系统，与特异性表达、思维、情感、情绪及认知等功能相关，可能参与调节多巴胺能系统对思维和情绪的控制. 本研究旨在通过研究样本总体上和不同分层间的传递不平衡检测（transmission disequilibrium test, TDT）及单体相对危险度检测（haplotype relative risk test, HRR）寻找DRD3受体的基因第一外显子Ser9Gly多态性与精神分裂症易感性之间的关联.
