多巴胺D2,D3受体基因多态性与原发性震颤遗传易患性的相关研究  

Association between polymorphisms in the human dopamine D2 and D3 receptor genes and genetic susceptibility of essential tremor

作　　者：唐北沙[1] 柳四新 张智博 严新翔[1] 刘罗坤 沈璐[1] 江泓[1] 杨期明[1] 杨晓苏[1] 金丽娟[1] 

机构地区：[1]中南大学湘雅医院神经内科,湖南,长沙,410008 [2]长沙市一医院神经内科,长沙市神经病学研究所,湖南,长沙,410005

出　　处：《中国神经科学杂志》2002年第1期433-437,共5页

基　　金：湖南省科委基金 (10 13 1)资助项目

摘　　要：原发性震颤 (ET)是一种其病因与多种因素相关、较常见的运动障碍性疾病 ,遗传因素是病因之一。研究证实ET与帕金森病 (PD)是相关联的疾病 ,二者的震颤发生机制类似 ,均与中枢多巴胺能神经系统功能失调相关。为探讨多巴胺D2 ,D3受体基因多态与ET遗传易患的相关性 ,采用聚合酶链反应 限制性片段长度多态性(PCR RFLP)技术 ,首次检测 80例无血缘相关的ET患者与 10 0例正常对照DRD2基因TaqⅠ ,DRD3基因MspⅠ位点突变 ,比较ET与正常人之间的多态性频率的差异。DRD2基因TaqⅠ位点及DRD3基因MspⅠ位点等位基因的基因型、基因频率分布在ET与正常对照无显著差异。DRD2基因TaqⅠ与DRD3基因MspⅠ位点多态性可能与ET的遗传易患性无关。Essential tremor (ET) is one of the most common movement disorders and its pathogenic mechanism involves multifactors ,including the heterogenous factor . Meanwhile , ET and Parkinson's disease (PD) are believed to be correlated diseases and have the same mechanism of tremor, which are associated with disorder of central dopaminergic nervous system . To clarify the relation of the polymorphisms of dopamine D2, D3 receptors (DRD2, DRD3) with the genetic susceptibility of ET. DNA samples from 80 cases of ET and 100 age and sex matched controls were collected .The DRD2 gene polymorphism was analyzed with Taq A restricted fragment length polymorphism (RFLP) ,DRD3 with MspⅠand polymerase chain reaction--RFLP methods . No significant differences in alleles and allele frequency of Taq Ⅰsite at the DRD2 and MspⅠsite at the DRD3 gene locus were observed between ET and the controls . There may be no association between polymorphisms Taq A site at DRD2 gene ,MspⅠsite at DRD3 and genetic susceptibility of ET.

关 键 词：原发性震颤 多巴胺受体 基因多态性 聚合酶链反应 限制性片段长度多态 ET 遗传易患性 

分 类 号：R741.02[医药卫生—神经病学与精神病学]