在亚洲和欧洲人群中对一个AC二核苷酸重复的多态性位点与精神分裂症的关联研究  

Association study of an (AC)n dinucleotide repeat and schizophrenia in Asian and European populations

作　　者：马捷[1,2] 樊金波[1,2] 吴胜男[1,2] 张长顺[1,2] 纪宝虎[1,2] 王磊[1,2] 李兴旺[1,2] 顾牛范[3] 冯国鄞[3] David St Clair 贺林[1,2] 

机构地区：[1]上海交通大学Bio-X中心 [2]中国科学院上海生命科学研究院营养所,上海200031 [3]上海市精神卫生中心 [4]Department of Mental Health,University of Aberdeen,Medical School,Foresterhill,Aberdeen,AB252ZD,UK

出　　处：《遗传》2007年第10期1207-1213,共7页Hereditas（Beijing)

基　　金：中国教育部科学技术研究(重大)项目(编号:10414)资助~~

摘　　要：连锁研究表明,染色体15q13-q14区域可能是精神分裂症的易感区域。在此项研究中,使用来自中国和苏格兰的3套独立的样本,对位于D15S118的AC二核苷酸重复的多态性位点与精神分裂症进行了关联分析。在苏格兰病例-对照样本中,该多态性位点的等位基因在患者和正常人中的分布存在显著性差异（P=0.04）,但是这一结果在中国的病例-对照组中没有得到重复。在中国三口之家的样本中,我们没有观察到有等位基因从正常的父母向患病子女的传递不平衡。总之,至少在中国人中,此结果不支持这个AC二核苷酸重复的多态性位点在精神分裂症的易感性中扮演重要的角色。后续的研究有必要进一步阐明在欧洲人中该多态性位点在精神分裂症的易感性中扮演的角色。Linkage studies have suggested that chromosome 15q13-q14 may harbor a susceptibility locus for schizophrenia. In the current study, the association between a （AC）n dinucleotide repeat polymorphism at D15S118 and schizophrenia was investigated using three independent samples from the Hart Chinese population and the Scotland population. In the population-based study, a significant difference was found between the allele frequency distributions in schizophrenia patients and control subjects in the Scottish samples （P = 0.04）, but was not replicated in the Chinese samples. In a family-based study, no significant transmission disequilibrium from heterozygous parents to affected offspring was observed. Overall, our resuits did not support the hypothesis that the （AC）n dinucleotide repeat polymorphism plays a major role in schizophrenia susceptibility, at least in the Chinese population. Further studies are needed to elucidate its role in schizophrenia susceptibility in European population.

关 键 词：精神分裂症 关联 传递不平衡(TDT) D15S118 α-7烟碱受体亚基基因(CHRNA7) 

分 类 号：R749.3[医药卫生—神经病学与精神病学]