hURAT1基因3′非编码区SNP筛查及与原发性高尿酸血症的关系

POLYMORPHISMS IN 3'-UNTRANSLATED REGION OF URATE TRANSPORTOR 1 RELATED TO HYPERURICEMIA

目的在人尿酸盐转运蛋白1(hURAT1)基因3′非编码区(3′UTR区)筛查与原发性高尿酸血症关联的单核苷酸多态性(SNP)。方法对原发性高尿酸血症病人273例、健康体检者429例(正常对照组),采用酚-氯仿法提取外周血白细胞基因组DNA,特异性引物扩增3′UTR区,并进行基因测序,对基因型及频率进行分析。结果共检测到3种SNP,分别为1925G>A、delG1951及G2174A,上述SNP位点所组成的基因型频率在高尿酸血症病人组和正常对照组差异无显著性。2例原发性高尿酸血症病人hURAT1基因3′UTR区第1827-1828位2个碱基缺失(delTC1827-1828),这2例病人的血尿酸水平明显高于其他病人,正常对照组未检测到该缺失。结论3′UTR区存在3个SNP位点,其中delTC1827-1828位点可能是原发性高尿酸血症致病位点。

Objective To find new single nucleotide polymorphisms （SNP） in 3r-untranslated region （3＇UTR） of uratl related to primary hyperuricemia. Methods This study consisted of 273 patients with primary hyperuricemia （PH）, and 429 healthy volunteers. DNA was purified from peripheral blood and 3＇UTR of the URAT1 gene was sequenced. The genotype and its frequencies were analyzed. Results Three kinds of SNP were found： 1925 G〉A, del G 1951 and G 2174 A. The differences of genotype frequencies between the groups were not significant. The del TC 1827-1828 was absent in two patients, but no absence observed in healthy volunteers. These two patients showed a higher serum uric acid （573 μmol/L, 630 μmol/L VS 499. 69±136.08 μmol/L） than the rest in the same group. Conclusion Three SNP sites were detected in 3＇UTR region, in which, the del TC 1827-1828 is likely to be the pathogenic site of hyperuricemia.