权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Molecular genetic study of schizophrenia by using sib-pair analysis and microsatellite markers

利用同胞对分析和微卫星标记进行精神分裂症的分子遗传学研究

基本信息

批准号：
09470211
负责人：
YONEDA Hiroshi
金额：
$ 8.19万
依托单位：
Osaka Medical College
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B).
财政年份：
1997
资助国家：
日本
起止时间：
1997 至 2000
项目状态：
已结题

项目摘要

The hyperactivity of dopaminergic systems is one of the major etiological hypotheses of schizophrenia. The major support of this hypothesis is that effective antipsychotic drugs bind to dopamine receptors and improve acute schizophrenic symptoms. For this reason we investigated the allelic association between schizophrenia and polymorpisms of dopamine D2 receptor (DRD2) and dopamine transporter (DAT) genes. The subjects were 190 biologically unrelated patients with schizophrenia and 103 healthy controls. The DRD2 gene is located on the long arm of chromosome 11 (11q22-23) and revealed Ser/Cys 311, -141C Ins/Del and Taq1A polymorphisms. The DAT gene is located on the short arm of chromosome 5 and has polymorphisms by varied number of repeat sequence of 40 base pairs. The polymorphisms of DRD2 and DAT were detected by RFLP or PCR-PFLP.There were no significant differences between the patients and controls in the gene frequencies and the frequencies of the genotypes. We found no association between schizophrenia and DRD2 and DAT.However the polymorphisms of DRD2 (Ser/Cys 311, -141C Ins/Del) showed significant influences on the symptoms of schizophrenia. A multi-site collaborative study, which we joined it, showed some possible results of linkage by using genome scanning.

多巴胺能系统的过度活跃是精神分裂症的主要病因假说之一。这一假说的主要支持是有效的抗精神病药物与多巴胺受体结合，改善急性精神分裂症症状。因此，我们研究了多巴胺D2受体（DRD 2）和多巴胺转运蛋白（DAT）基因多态性与精神分裂症之间的等位基因关联。研究对象为190名无血缘关系的精神分裂症患者和103名健康对照者。DRD 2基因位于11号染色体长臂（11 q22 -23），具有Ser/Cys 311、-141C Ins/Del和Taq 1A多态性。DAT基因位于5号染色体短臂上，具有40个碱基重复序列的多态性。采用限制性片段长度多态性（RFLP）或聚合酶链反应-聚合酶链反应-聚合酶链反应多态性（PCR-PFLP）方法检测DRD 2和DAT基因的多态性，结果表明，DRD 2和DAT基因的基因频率和基因型频率在两组间均无显著性差异。DRD 2和DAT与精神分裂症无相关性，但DRD 2的Ser/Cys 311，-141C Ins/Del多态性对精神分裂症的症状有显著影响。我们加入的一项多地点合作研究通过使用基因组扫描显示了一些可能的连锁结果。