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The Correlative Research Of The Polymorphism Of SLC22A12 Gene Exon 1 C258T And The Hyperuricemia

Posted on:2008-09-19Degree:MasterType:Thesis
Country:ChinaCandidate:B WangFull Text:PDF
GTID:2144360215475257Subject:Endocrinology and metabolism
Abstract/Summary:PDF Full Text Request
Objective: investigate the polymorphisms of SLC22A12 gene in exon 1 C258T of th-e people in Shangdong lirroral. And analysis the relationship beween the polymorphismsand hyperuricemia.(Human urate transporter 1 (hURAT1) is a member of the organic an-ion transporter family, and is coded by SLC22A12. hURAT1 mainly regulates tubular u-rate reabsorption, and retains the dynamic equilibrium of the uric acid. It was found thatthe polymorphisms of hURAT1 gene in exon 1 C258T concerns with hyperuricemia in E-urope.Methods: We had collected all the cases in November, 2005 to April, 2006.The labo-ratory work had been done in the endocrine laboratory of Qingdao Medical College in M-ay to July, 2006. 138 hyperuricemia patients from the clinic of Qingdao Medical Collegeand the Qingdao community were internalized, which was named the group of hyperuric-emia. At the same time, we selected 117 healthy people from the area of Qingdao, whichnamed the health control group. All the selects filled in the agree book, and came to visittwice. We recorded detailedly the medication, body high, body mass, waistline, rump cir-cumference, body mass index, blood pressure and family medical history at the fist visit.They were checked blood uric acid, fasting blood glucose, blood -fat, hepatic enzyme, in-sulin at the second visit. Genomic DNA sample were extracted from peripheral blood of138 hyperuricemia patients and 117 healthers. Analysis the difference of biochemical ind-icator between the two groups. Two cupple of primers were designed. The polymorphismof Exon 1 C258T gene were analyzed in every sample by PCR, direct DNA sequencing,case-control study. The associativity was analyzed beween the 258T allele, uric acid, con-tractive pressure, diastolic pressre, WHR, body mass index, blood glucose, total choleste-rol, triacylglycerol and hyperuricemia by logistic method.Results:①The comparison of general condition beween the two groups: The diff-erences have statiscal significance in UA, SBP, DBP, GLU, BMI, WHR beween the twogroups (P<0.05), but it is not significant in age, TG, TC. Insulin has not been analyzedin this test because the samples are not enough.②The fragment length of the PCR prod- uction is 189 bp. The genetypes (CC, CT, TT) were identified by the ultraviolet gelatumanalysator. The differences of the genetypic frequency (CT, TT)and allele frequency (C,T)have statiscal significance beween two groups. (P<0.05, P<0.001), but the difference ofthe genetypic frequency (CC) has not statiscal significance.③The different amphifiedproductions were sequenced by Shanghai Biological Engineering Company.The gene ord-er are corresponded with the characteristic of the C258T polymorphism.④The comparis-on of the clinic phenotype in CC, CT, TT genotypes: The differences have statiscal signif-icance in UA, SBP, DBP, TC, TG, BMI, WHR beween the CC genetype phenotype andthe TT genetype phenotype (P<0.001, P<0.05). But it is not significant in GLU. Thedifferences have statiscal significance in UA, SBP, TC, BMI, WHR, DBP, TG, FPG bew-een the CT genetype phenotype and the TT genetype phenotype (P<0.001, P<0.05).Thedifferences have statiscal significance in UA, SBP, TC, BMI, WHR, DBP, TG, FPG bew-een the CC genetype phenotype and the TT genetype phenotype (P<0.001,P<0.05).Conclusions: Genetype CC or allele C is the predisposing genes forhyperuricemia.,andgenetype TT is the protecting genes for it.
Keywords/Search Tags:Hyperuricemia, Gene, Polymorphism, Genetics
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