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Study On Relationship Between Single Nucleotide Polymorphism Of The SLC2A9、SLC17A3、ABCG2Gene Genetic Susceptibility To Gout

Posted on:2014-09-07Degree:MasterType:Thesis
Country:ChinaCandidate:Y Q YouFull Text:PDF
GTID:2254330392467239Subject:Internal Medicine
Abstract/Summary:PDF Full Text Request
Object: In order to study the molecular mechanisms of the primary gout causeby single nucleotide polymorphism (SNP) and seek new genetic markers formolecular diagnostics and the early screening of the gout gene susceptiblepopulation.Method: one hundred fifty-four patients and one hundred sixty health volunteerswere selected and detected the genotypes of the three SNP(rs16890979, rs1165205,rs2231142and located in SLC2A9, SLC17A3, ABCG2gene respectively) bytri-primers PCR(tri-PCR), and the products of the tri-PCR were detected byagarose gel electrophoresis and Compared with Sanger method. The Hardy-Weinbergequilibrium and some parameters of the SNP was test using website based softwareat http://ihg.gsf.de/ihg/snps.html. The non-conditional logistic regressionmethod of the statistics software was used to calculate the relative risk oddsratio (OR) and95%confidence interval (CI), while blood uric acid, cholesteroland creatinine were also calculated as a correction factor., and the relationshipof the biochemical indicator and the genotype of three SNP were be analyzed bysingle factor analysis of variance method.Results: According to the results, the three SNP have reached geneticequilibrium.1.The tri-primer method has a intuitive and accurate results, and compared withSanger method, the tri-primer method are high sensitivity, simple operation andlow cost;2. For rs16890979, the CC genotypes have11.386times higher risk than thosewith normal AA genotype,13.745times after correction; A/C allele have3.897times higher risk,6.837times after correction; on the other hand, C allelehave4.224times higher risk. For rs2231142, AA allele have4.973times higher risk, A allele have2.516times higher risk than those with normal C allele.Rs1165205also has polymorphism, but its genotype and OR value were notsignificantly different in the gout and control group.3For rs16890979, the results showed the association of this SNP with the levalof blood uric acid, triglycerides and cholesterol; for rs2231142, this showedthe association between the genotype and blood uric acid, C-reactive protein,triglycerides, search pressure, diastolic blood pressure, kidney stones andother biochemical markers; for rs1165205, there is also no statisticallysignificant correlation between the genotype and the biochemical indices. Wealso found some parameters of rs22311423had also no statistically significantcorrelation. Therefore, we have to obtain more samples to research the molecularmechanism of the SNP for gout.Conclusion:Based on the results on a certain number of samples,we preliminarily found thatthe genotype of the rs16890979, rs22311423is risk factors for the goutsusceptibility in the crowd of Quanzhou area。...
Keywords/Search Tags:gout, Single nudeotide polymorphisms, tri-primer PCR, moleculardiagnosis
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