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目的 探讨多巴胺D2 受体基因多态与ET遗传易患者。方法 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基因突变 ,比较essentialtremor(ET)与正常对照之间的多态性频率的差异。结果 DRD2 基因TaqⅠA和等位基因频率分布在ET组与正常对照无显著差异。结论 DRD2 基因TaqⅠA多态性可能与ET的遗传易患性无关 ,但不能排除ET发生与中枢多巴胺能神经系统功能失调无关
Objective To investigate the polymorphism of dopamine D2 receptor gene and ET genetic predisposition. Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the TaqⅠ gene mutation in 80 DRD2 unrelated ET patients and 10 normal controls. The comparison of essentialtremor (ET) Differences in the frequency of polymorphisms between controls. Results The frequency distribution of TaqⅠA and allele of DRD2 gene in ET group was not significantly different from the normal control. Conclusion The TaqⅠA polymorphism of DRD2 gene may not be related to the genetic predisposition of ET, but it can not be ruled out that the occurrence of ET is not related to the dysfunction of central dopaminergic system