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目的研究在不同发病年龄、性别和疾病严重程度的特发性震颤(ET)患者中,多巴胺D3受体(DRD3)基因多态性与疾病的关联性。方法使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对60例ET患者和70例对照的DRD3受体Ser9Gly变异进行检测,并按照年龄、性别和疾病严重程度分组观察该基因多态性与疾病的关联性。结果 DRD3基因Msc I位点等位基因的基因型、基因频率分布在ET组与正常对照组无显著性差异。在不同年龄分组、性别分组和疾病严重程度分组中DRD3基因Msc I位点的基因型和基因频率也无显著性差异。结论 DRD3基因Msc I位点多态性与ET的遗传易感性无关。
Objective To investigate the association of dopamine D3 receptor (DRD3) gene polymorphism with disease in patients with idiopathic tremor (ET) of varying age, gender, and disease severity. Methods Ser9Gly variants of DRD3 receptor in 60 patients with ET and 70 controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and were grouped by age, sex and disease severity The genetic polymorphism and disease association. Results There was no significant difference in genotypes and gene frequencies of Msc I allele between ET group and normal control group. There was no significant difference in the genotypes and frequencies of the Msc I site of DRD3 gene in different age groups, sex groups and disease severity groups. Conclusion The Msc I polymorphism of DRD3 gene has nothing to do with the genetic predisposition of ET.