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.
出处
《中国现代医学杂志》
CAS
CSCD
北大核心
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)
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
primary nocturnal enuresis （PNE）
Dopamine D4 receptor
, polymerase chain reaction （PCR）
allele specific amplification （ASA）
