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《Acta Academiae Medicinae Qingdao Universitatis》 2009-03
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POLYMORPHISMS IN 3'-UNTRANSLATED REGION OF URATE TRANSPORTOR 1 RELATED TO HYPERURICEMIA

L SEN-SEN,WU XIU-YING,HAN LIN,et al (Department of Endocrinology,The Affiliated Hospital of Qingdao University Medical College,Qingdao 266003,China)  
Objective To find new single nucleotide polymorphisms(SNP) in 3'-untranslated region(3'UTR) of urat1 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 GA,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.
【CateGory Index】: R589.7
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