Dai Xiao-Mei, Ma Hong-Wei, Lu Yao, Pan Xue-Xia
Department of Developmental Pediatrics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2008 Oct;10(5):607-10.
To study polymorphisms of dopamine D4 receptor (DRD4) in children with primary nocturnal enuresis (PNE) and explore the relationship between DRD4 gene polymorphisms and PNE.
Genomic DNA was isolated from leukocytes in 86 unrelated children with PNE and in 100 healthy unrelated children (controls). Polymorphisms of DRD4-1240L/S, -616C/G and -521C/T were genotyped by allele-specific primer PCR.
There were significant differences in allele frequencies (x2=8.13, P<0.05) and genotypes frequencies (x2=6.23, P<0.05) of DRD4-616C/G between PNE patients and healthy controls. The frequency of haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T in PNE patients was statistically higher than that in healthy controls (x2=5.88, P<0.05).
The change of C to G of DRD4-616 may affect the induction and transcription of DRD4 gene. The haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T may synergistically inhibit the transcription activity of DRD4 gene. This might lead to a reduction of DRD4 protein expression and cause nocturnal enuresis.
研究原发性夜间遗尿症（PNE）患儿多巴胺D4受体（DRD4）的多态性，探讨DRD4基因多态性与PNE的关系。
从86例无亲缘关系的PNE患儿及100例无亲缘关系的健康儿童（对照组）的白细胞中提取基因组DNA。采用等位基因特异性引物PCR对DRD4 - 1240L/S、- 616C/G和- 521C/T的多态性进行基因分型。
PNE患者与健康对照组之间DRD4 - 616C/G的等位基因频率（x2 = 8.13，P < 0.05）和基因型频率（x2 = 6.23，P < 0.05）存在显著差异。PNE患者中由DRD4 - 1240L/S、- 616C/G和- 521C/T这3个功能多态性位点组成的单倍型LCT频率在统计学上高于健康对照组（x2 = 5.88，P < 0.05）。
DRD4 - 616的C到G的变化可能影响DRD4基因的诱导和转录。由DRD4 - 1240L/S、- 616C/G和- 521C/T这3个功能多态性位点组成的单倍型LCT可能协同抑制DRD4基因转录活性。这可能导致DRD4蛋白表达降低并引起夜间遗尿。
