【摘要】：目的:探討波形蛋白基因(Vimentin)外顯子和啟動子序列(包括鏈接外顯子和啟動子的5'非翻譯區(qū),5'UTR)與中國漢族人群年齡相關(guān)性皮質(zhì)性白內(nèi)障的關(guān)系。 方法:選擇年齡相關(guān)性皮質(zhì)性白內(nèi)障患者138例(病例組)及同一地區(qū)正常對照133例(對照組)進行以醫(yī)院病例資料為基礎(chǔ)的對照研究。以外周血基因組DNA為模板,通過聚合酶鏈反應(yīng)(Polymerase Chain Reaction, PCR)擴增Vimentin基因外顯子、5'UTR以及啟動子,并將PCR產(chǎn)物純化后測序。測序結(jié)果與GenBank公布的Vimentin基因正常序列比對。所有受試對象均對六種單核苷酸多態(tài)性(single nucleotide polymorphisms, SNPs),分別是:VIM:rs3758410(VIM:g. 17271400GC)、VIM:g. 17271110GC、VIM:g. 17270912AG、VIM:rs17140300(VIM:g. 17269762AG)、VIM:g. 17268954CG和VIM:g. 17268834TC進行基因分型分析�；蚍中秃蛦伪扼w表型采用卡方檢驗進行分析。 結(jié)果:病例組和對照組,Vimentin基因全部外顯子序列中,并未發(fā)現(xiàn)突變或是SNPs。病例組和對照組Vimentin基因5'UTR有兩種SNPs具有顯著性差異。VIM:rs3758410(VIM:g. 17271400GC)等位基因頻率在年齡相關(guān)性皮質(zhì)性白內(nèi)障組中顯著高于正常對照組(P =0.0001, OR: 2.208)。VIM:g. 17271110GC基因分型頻率在年齡相關(guān)性皮質(zhì)性白內(nèi)障組高于正常對照組(P =0.04, OR: 1.591)。VIM:g. 17270912G和VIM:g.17271110C-22G的單倍型與年齡相關(guān)性皮質(zhì)性白內(nèi)障呈強相關(guān)性(P=0.008, OR: 8.185)。兩組Vimentin基因啟動子序列中發(fā)現(xiàn)三種SNPs,分別是:VIM:rs17140300(VIM:g. 17269762AG)、VIM:g. 17268954CG和VIM:g. 17268834TC。暫時未發(fā)現(xiàn)此三種SNPs與年齡相關(guān)性皮質(zhì)性白內(nèi)障相關(guān)(P 0.05)。 結(jié)論:中國漢族人群年齡相關(guān)性皮質(zhì)性白內(nèi)障的發(fā)病與Vimentin基因外顯子無關(guān)。本研究首次發(fā)現(xiàn)Vimentin基因與中國漢族人群年齡相關(guān)性皮質(zhì)性白內(nèi)障相關(guān)的新的SNPs,即VIM:g. 17271110GC、VIM:g. 17270912AG、VIM:g. 17268954CG和VIM:g. 17268834TC。本研究首次在年齡相關(guān)性皮質(zhì)性白內(nèi)障中發(fā)現(xiàn)VIM:rs3758410(VIM:g. 17271400GC)和VIM:rs17140300(VIM:g. 17269762AG)。VIM:g. 17270912G和17271110C-22G是中國漢族人群年齡相關(guān)性皮質(zhì)性白內(nèi)障的候選單倍型。
[Abstract]:Aim: to investigate the relationship between the vimentin gene (Vimentin) exon and promoter sequence (including 5'untranslated region (5'UTR) linked to exon and promoter) and age-related cortical cataract in Chinese Han population. Methods: 138 cases of age-related cortical cataract (case group) and 133 cases of normal control (control group) were studied. The exon, 5'UTR and promoter of Vimentin gene were amplified by polymerase chain reaction (Polymerase Chain Reaction, PCR) using genomic DNA of peripheral blood as template. The PCR product was purified and sequenced. The sequencing results were compared with the normal sequence of Vimentin gene published by GenBank. The six single nucleotide polymorphisms (SNP) (single nucleotide polymorphisms, SNPs), of all subjects were: VIM:rs3758410 (VIM:g.) 17271400GC), VIM:g. 17271110GC,VIM:g. 17270912 AGI: rs17140300 (VIM:g. 17269762AG), VIM:g. 17268954CG and VIM:g. 17268834TC genotyping was performed. Genotyping and haploid phenotypes were analyzed by chi-square test. Results: no mutation or SNPs. was found in all exons of Vimentin gene in case group and control group. There was a significant difference between the two SNPs types of Vimentin gene 5'UTR between the case group and the control group. VIM:rs3758410 (VIM:g.) 17271400GC) allele frequency in age-related cortical cataract group was significantly higher than that in normal control group (P = 0.0001, OR: 2.208). VIM:g. The frequency of 17271110GC genotyping in age-related cortical cataract group was higher than that in normal control group (P = 0.04, OR: 1.591). VIM:g. Haplotypes of 17270912 G and VIM:g.17271110C-22G were strongly correlated with age-related cortical cataract (P0. 008, OR: 8.185). Three kinds of SNPs, were found in two groups of Vimentin gene promoters: VIM:rs17140300 (VIM:g.) 17269762AG), VIM:g. 17268954CG and VIM:g. 17268834TC. These three SNPs were not found to be associated with age-related cortical cataract (P 0. 05). Conclusion: age-related cortical cataract is not related to the exon of Vimentin gene in Chinese Han population. In this study, we first found a new SNPs, of Vimentin gene associated with age-related cortical cataract in Chinese Han population, that is, VIM:g.. 17271110GC,VIM:g. 17270912AG,VIM:g. 17268954CG and VIM:g. 17268834TC. VIM:rs3758410 (VIM:g.) was first found in age-related cortical cataract in this study. 17271400GC) and VIM:rs17140300 (VIM:g.) 17269762AG) 17270912 G and 17271110C-22G are candidate haplotypes for age-related cortical cataract in Chinese Han population.
【學位授予單位】：蘇州大學
【學位級別】：碩士
【學位授予年份】：2011
【分類號】：R776.1

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