山东半岛东部地区精神分裂症——21号染色体基因扫描研究  

Association mapping of schizophrenia loci on chromosome 21,by use of pooled DNA genomic screen in eastern Shandong peninsular

作　　者：周鹏[1,2] 魏然[1,2] 温晓燕[1,2] 林汝湘[1,2] 朱建平[3] 翁正[4] 栾萌[1,2] 朱海宁[1,2] 于锡巧[1,2] 高春义[1,2] 陈刚 

机构地区：[1]山东省医学科学院基础医学研究所医学遗传学重点实验室,济南250062 [2]山东省现代医用药物与技术重点实验室,济南250062 [3]山东省潍坊市精神卫生中心 [4]山东省精神卫生中心 [5]不详

出　　处：《山东精神医学》2006年第4期241-244,共4页Shangdong Archives of Psychiatry

基　　金：国家自然科学基金(30440042);山东省自然科学基金重点项目(Z2004C10)

摘　　要：目的用DNA混合池(DNA pooling)的方法,通过微卫星遗传标记对精神分裂症患者及对照者的21号染色体进行扫描,寻找精神分裂症的关联区域。方法在21号染色体上间隔10 cM(厘摩)遗传距离选择了5个微卫星遗传标记,对119例精神分裂症患者与119例正常对照者组成的DNA混合样本分别进行了扫描。用卡方[X^2]检验的方法进行统计学分析,逐一比较患者组与对照组等位基因峰型比率的差异。结果在D21S1256遗传位点患者组和对照组的等位基因频率差异有显著性意义,P＜0．001。结论山东半岛东部地区精神分裂症患者群体在21号染色体长臂存在关联区域,可能包含致病基因或调控因子的病变。Objective A screen on chromosome 21 with microsatellite markers in schizophrenic patients and normal controls was performed for finding genetic loci associated with schizophrenia. Methods A total of 5 microsatellite markers on chromosome 21 spaced at average of 10 cM were selected and two separated DNA pooling samples consisting of schizophrenic group （n= 119） and control group （n= 119） was genotyped respectively. Statistic analysis was performed by Chi-square method to compare the difference between the ratio of each allele between the two pooling samples. Results Significant statistic difference was found at D21S1256 between two groups. Conclusion D21S1256 locus on chromosome 21 is associated with schizophrenia in eastern Shandong peninsula, fine mapping and searching for candidate genes are warranted in this region.

关 键 词：精神分裂症 染色体 遗传 DNA混合池 

分 类 号：R749.3[医药卫生—神经病学与精神病学] Q343.2[医药卫生—临床医学]