多巴胺D_2受体基因与迟发性运动障碍关联研究

An association study between dopamine D_2 receptor gene and tardive dyskinesia

目的 探讨DRD2 基因TaqI多态性的分布与迟发性运动障碍 (TD)的关联性。 方法 应用聚合酶链反应 限制性片段长度多态的方法 ,检测 10 0例精神分裂症伴TD患者、6 0例无TD患者和10 2名正常人DRD2 基因TaqI多态性 ,比较各组等位基因和基因型频率分布的差异。结果 经吻合度检验 ,精神分裂症伴有TD组、无TD组和正常对照组DRD2 基因各基因型的分布均符合Hardy Wein berg平衡法则 (χ2 =0 2 4 2 ,0 2 0 8,0 0 0 2 ,υ均 =1,P均 >0 0 5 ) ;经比较 ,显示各基因型及等位基因在各组间分布无显著性差异 (经Z检验 ,υ均 =1,P均 >0 0 5 ) ;TD患者DRD2 基因多态分布在不同性别之间无显著性差异 (P >0 0 5 ) ;在TD组中 ,基因型频数及等位基因频数与病程、服药时间、药物、剂量和AIM评分无显著性意义 (P >0 0 5 )。结论 DRD2 基因TaqI多态性可能与TD的发生无关联性。

Objective: To investigate the relationship between the TaqI polymorphism of dopamine D 2 receptor gene and tardive dyskinesia (TD). Methods: The polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) technique was used to detect the genotypes of DRD 2 gene in 100 patients with schizophrenia with tardive dyskinesia (TD), 60 patients with schizophrenia without TD and 102 healthy controls. The distributions of genotypes and alleles were tested according to the Hardy Weinberg law. The Z test was used to detect the difference of DRD 2 polymorphism distribution among different groups. Results: The distribution of genotypes and alleles in schizophrenia with TD or without TD, or in healthy controls all followed Hardy Weinberg law (χ 2=0.242,0.208,0 002, all υ=1, all P >0.05). Compared with all controls, there were no significant difference in genotypes and alleles distributions (by Z test, both υ=1, both P >0.05). Conclusion: The polymorphism of DRD 2 gene at TaqI site may have no effect on TD.