多巴胺D_2受体启动子区域基因多态性与抽动-秽语综合征的关联分析

Association analysis of dopamine D_2 receptor promotor gene polymorphism and Tourette syndrome

目的 :探讨抽动 秽语综合征 (TS)与多巴胺D2 受体启动子区域 (DRD2P)多态性的关系 .方法 :应用聚合酶链反应 限制性片断长度多态性技术对 2 4例患儿和 30例正常对照进行DRD2P基因 1 4 1CDel/Ins多态性和TS的关联性分析 .结果 :共检出 2种基因型 :纯合子 1 4 1CIns/Ins(1 6 0bp ,1 4 4bp)与杂合子 1 4 1CDel/Ins(30 4bp ,1 6 0bp ,1 4 4bp) ,未检出纯合子 1 4 1CDel/Del(30 4bp ,30 4bp) .病例组 1 4 1CDel/Ins多态性的基因型频率与对照组的差异无显著性 (χ2 =0 .0 93,ν=2 ,P >0 .0 5 ) ;等位基因频率比较也无显著性差异 (χ2 =0 .0 6 0 ,ν=1 ,P >0 .0 5 ) .结论 :抽动 秽语综合征与DRD2P基因 1 4

AIM: To detect the relationship between Tourette syndrome and dopamine D 2 receptor promotor gene(DRD2P) polymorphisms. METHODS: Association analysis of dopamine D 2 receptor promotor gene and Tourette syndrome was made in 24 newly diagnosed Tourette syndrome patients and 30 normal controls, using PCR RFLP technique. RESULTS: Two kinds of genetypes were obtained:homozygote 141C ins/ins(160 bp, 144 bp)and heterozygote 141C Del/ins (304 bp, 160 bp and 144 bp). No homozygote 141CDel/Del(304 bp, 304 bp)was found in our study and no significant difference was found between the cases and controls in genetypes( χ 2= 0.093, ν = 2, P >0.05)and allele frequencies ( χ 2=0.060, ν =1, P > 0.05)of DRD2P gene. CONCLUSION: Our study does not show any association between DRD2P and Tourette syndrome.