多巴胺D4受体基因启动子区多态性与原发性夜间遗尿症的关联研究  

Association study between Dopamine D4 receptor gene promotor polymorphisms and primary nocturnal enuresis

作　　者：戴晓梅[1] 麻宏伟[1] 卢瑶[2] 潘学霞[1] 

机构地区：[1]中国医科大学附属盛京医院,辽宁沈阳110004 [2]中国医科大学实验技术中心三部,辽宁沈阳110001

出　　处：《中国现代医学杂志》2008年第15期2220-2222,共3页China Journal of Modern Medicine

基　　金：国家自然科学基金资助项目(No:30571985)

摘　　要：目的研究多巴胺D4受体(dopamine D4 receptor,DRD4)基因-616C/G位点的多态性与原发性夜间遗尿症(PNE)的相关性。方法选取无亲缘关系的PNE儿童86例以及无亲缘关系的健康儿童100例为对照组,提取静脉血白细胞基因组DNA,采用聚合酶链反应及等位基因特异性扩增技术检测DRD4基因-616C/G位点的基因型。结果PNE组与对照组DRD4-616C/G位点的等位基因频率及其基因型频率差异有显著性(χ2=9.022,P=0.003;χ2=7.987,P=0.018)。结论PNE儿童DRD4基因-616位点由C到G的转换可能影响DRD4基因的诱导及转录,使DRD4蛋白表达降低,多巴胺递质代谢通路异常,睡眠觉醒障碍,引起夜间遗尿。[Objective] To study polymorphisms of Dopamine D4 receptor （DRD4） -616C/G and to correlate the distribution of their aUelic combinations with PNE. [Method] Genomic DNA was isolated from venous blood leukocytes from 86 unrelated patients with PNE and 100 healthy unrelated children as control. Polymorphisms of DRD4 -616C/G were genotyped by allele-specific primer（ASP） PCR. [Result] There were significant differences in allele frequencies or genotypes frequencies （X^2=9.022, P =0.003; X^2=7.987, P =0.018） of DRD4-616C/G between PNE group and healthy group.[Conclusion] The change of C to G may influence the induction and transcription of DRD4 gene, which would depress the expression of proteinum, provoke abnormality of Dopamine transmitter metabolic pathway, hinder sleep awareness and cause nocturnal enuresis.

关 键 词：原发性夜间遗尿症 多巴胺D4受体 聚合酶链反应 等位基因特异性扩增 

分 类 号：R729[医药卫生—儿科]