多巴胺D_2受体遗传多态与原发性震颤的易患性

The Polymorphism in the Human Dopamine D_2 Receptor Gene and Genetic Susceptibility to Essential Tremor in Chinese

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 。

Objectives To investigate the DRD 2 genetic susceptibility to essential tremor(ET) in Chinese.Methods Polymerase chain reaction-restricted fragment length polymorphism(PCR-RFLP) was used to determine the DRD 2 Taq ⅠA genotypes of 80 unrelated ET patients and 100 healthy controls.Results No significant differences in Taq ⅠA genotype and distributions of allele frequencies of Taq ⅠA loci at the DRD 2 gene were observed between ET and controls.Conclusions Taq ⅠA loci polymorphism at DRD 2 gene may be not associated to genetic susceptibility to ET,but the Taq ⅠA polymorphism at DRD gene could contribute the disorder of central dopaminergic neural system in ET.