关键词: 尿酸盐转运子1, 高尿酸血症, 单核苷酸多态性, 痛风

Abstract: Objective　To investigate the human urate transporter 1 (URAT1) gene rs893006 polymorphism by unlabeled probe technology and the association of genotypes and parameters in hyperuricemia of male Han people in Shanghai.   Methods　A total of 180 patients with primary gout and 260 healthy male subjects were enrolled to this study. Body mass index， blood pressure， serum uric acid， blood glucose， blood lipid ［total cholesterol (TC) and triglyeride (TG)］ and creatinine were determined. DNA was purified from peripheral blood, and rs893006 polymorphism was determined by unlabeled probe technology followed with sequencing analysis.  Results　GG， GT and TT genotypes were unambiguously distinguished by unlabeled probe technology, and the results were consistent with sequencing. The genotype frequencies of GG， GT， and TT in gout patients and healthy controls were 53.9%， 39.4%， 6.7% and 55.8%， 32.6%，11.6%， respectively. There were no significant differences in distribution of genotype and allele frequencies between gout patients and healthy controls. No statistical significance among the groups was found concerning body mass index， blood pressure， creatinine， TC and TG. However, serum uric acid levels in the TT genotype ［（274.00±26.00) μmol/L］ were significantly lower than those in the GT ［（346.00±32.00) μmol/L］ and GG genotypes ［(438.00±37.00) μmol/L］.  Conclusions　Unlabeled probe technology is a simple， rapid and accurate assay for genotyping the URAT1 gene. The rs893006 polymorphism in SLC22A12 gene was confirmed to be a genetic risk for hyperuricemia among male Han people.

Key words: Urate transporter 1, Hyperuricemia, Single nucleotide polymorphism, Gout