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Study On Relationship Between SOD2Gene Of SSNHL Genes In Yunnan Province

Posted on:2015-05-31Degree:MasterType:Thesis
Country:ChinaCandidate:L HuFull Text:PDF
GTID:2284330431478126Subject:Biochemistry and Molecular Biology
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Studies indicate, there are differences in susceptibility to SSNHL, may this susceptibility differences in pathogenesis and SSNHL important biological function of genes. Superoxide dismutase2(SOD2) is the only anti-oxidase in mitochondria, It can protect the inner ear, scavenging free radical.Mutations in this gene may influence the protective effect on the inner ear. Thereby increasing the risk of SSNHL individual. The project focuses on relation between superoxide dismutase2gene mutation and etiology of SSNHL, the main use of genomic DNA extraction, and multiple Snapshot technology researchsuperoxide dismutase2(SOD2) gene of multiple single nucleotide polymorphism (SNP) sites and the relationship between SSNHL. This preparation may be based on genomic probe, which found that patients with a potentially dangerous SSNHL in providing a theoretical basis for the clinical molecular diagnostics and personalized treatment.Determine the diagnostic criteria of sudden deafness:1.Suddenly occurred to onset within minutes, hours or days.2.Non-volatile sensorineural hearing loss can be mild, moderate or severe, and even deaf. Connected to at least two frequency hearing decline in more than20db. Mostly unilateral, bilateral or occasionally occur simultaneously or successively.3.Cause unknown(No clear reason or systemic or local factors not found).4. Tinnitus, ear blockage sense.5. Vertigo, nausea, vomiting,but not recurrent.6. In addition to the eighth cranial nerve, no other cranial nerve damage symptoms.SSNHL blood collection procedures and document creation:The diagnostic criteria for admission of patients by First People’s Hospital of Yunnan Province to ensure cases compliance with domestic and international epidemiological investigation, and collected according to the same specification standards. History collection Content:Adopt blood collection form The First People’s Hospital of Yunnan Province, the content of other diseases including basic information on admissions, ear history, diabetes and so on. Fill out and kept by doctors The topic of samples collected165cases of which80cases of SSNHL patients,85cases of normal control group. And peripheral blood collected by collecting venous blood2ml, EDTA anticoagulant and stored at-80℃refrigerator, extracted genomic DNA, afterwards, using SnapShot method Genotyping SOD2gene from SNP sites we selected.Results:In this study, selected populations in Yunnan, China, a total of165cases of80patients in the control group of85cases, selected5SNPs sites (respectively, rs5746136, rs5746129, rs2842960, rs4987023, rs4880), genotyped by using SnapShot genotyping methed, and chi-square test using software SPSS20.0, which found susceptibility locus rs5746136from SOD2gene was relevant to SSNHL, and one of the AG genotypes which confer the risk of SSNHL (P=0.016; OR=2.136,95%CI=1.147-3.978). Other sites were not found to be correlated with SSNHL. Considering the haplotype may have affect on disease phenotype, so we anaylsed haplotype frequencies between the two groups. We construct haplotype through5SNPs site. than, result was found to no statistical difference.
Keywords/Search Tags:SOD2, Superoxide dismutase2, gene polymorphism, SNP, SSNHL, .SnaPshot
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