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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 a disease whose motility is associated with a variety of factors, the more common dyskinetic disorders, and genetic factors are one of the causes. Studies have shown that ET is associated with Parkinson’s disease (PD), both of which have similar mechanisms of tremor and are associated with dysfunction of the central dopaminergic system. In order to investigate the association between dopamine D2 and D3 receptor gene polymorphisms and genetic susceptibility to ET, polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) was used to detect the association between 80 unrelated ET patients and 10 0 cases of normal controls DRD2 gene Taq Ⅰ, DRD3 gene Msp Ⅰ site mutation, ET and normal subjects to compare the frequency of polymorphism. The genotypes of Taq I site of DRD2 gene and Msp I site of DRD3 gene were not significantly different between ET and normal controls. Polymorphisms of Msp I polymorphisms of Taq I and DRD3 genes in DRD2 gene may not be related to the genetic predisposition of ET.