本文選題：視神經(jīng)脊髓炎 + 水通道蛋白質(zhì)��； 參考：《中國(guó)全科醫(yī)學(xué)》2017年03期

【摘要】：目的從基因水平研究水通道蛋白4(AQP4)基因外顯子區(qū)域單核苷酸多態(tài)性(SNP)位點(diǎn)以及其在視神經(jīng)脊髓炎發(fā)病機(jī)制中的可能作用。方法選取2010年3月—2012年6月湖北醫(yī)藥學(xué)院附屬襄陽(yáng)醫(yī)院收治的視神經(jīng)脊髓炎患者72例為視神經(jīng)脊髓炎組,同時(shí)期本院收治的多發(fā)性硬化患者80例為多發(fā)性硬化組,取全血DNA進(jìn)行AQP4基因的SNP位點(diǎn)分析,并通過(guò)特異性的定點(diǎn)誘變技術(shù)對(duì)攜帶AQP4基因表達(dá)序列的綠色熒光蛋白表達(dá)載體(p EGFP)重組質(zhì)粒進(jìn)行定點(diǎn)誘變,根據(jù)相應(yīng)SNP位點(diǎn)突變生成相應(yīng)突變質(zhì)粒,脂質(zhì)體轉(zhuǎn)染法將相應(yīng)質(zhì)粒轉(zhuǎn)染細(xì)胞建立抗AQP4抗體檢測(cè)細(xì)胞株。分析視神經(jīng)脊髓炎患者6種突變細(xì)胞株與原始細(xì)胞株血清抗AQP4抗體滴度水平及視神經(jīng)脊髓炎組與多發(fā)性硬化組不同細(xì)胞株血清抗AQP4抗體滴度陽(yáng)性率的差異。結(jié)果視神經(jīng)脊髓炎組共發(fā)現(xiàn)6個(gè)AQP4基因SNP位點(diǎn),位于2號(hào)和5號(hào)外顯子,分別為R108T、I110N、E280R、D281R、P295R、E317M。1、3、4號(hào)外顯子區(qū)域未發(fā)現(xiàn)AQP4基因SNP位點(diǎn),多發(fā)性硬化組未發(fā)現(xiàn)相應(yīng)的AQP4基因SNP位點(diǎn)。構(gòu)建R108T、I110N、R108T/I110N、E280R/D281R、P295R、E317M細(xì)胞株,R108T/I110N、E280R/D281R、E317M細(xì)胞株與原始細(xì)胞株血清抗AQP4抗體滴度水平比較,差異有統(tǒng)計(jì)學(xué)意義(P0.05)。視神經(jīng)脊髓炎組與多發(fā)性硬化組中原始細(xì)胞株及R108T、I110N、R108T/I110N、E280R/D281R、P295R、E317M細(xì)胞株血清抗AQP4抗體滴度陽(yáng)性率比較,差異均有統(tǒng)計(jì)學(xué)意義(P0.05)。結(jié)論視神經(jīng)脊髓炎患者AQP4基因SNP位點(diǎn)可能會(huì)導(dǎo)致表達(dá)蛋白一級(jí)結(jié)構(gòu)發(fā)生變化,可以改變其抗原性,抗原抗體反應(yīng)的強(qiáng)度不同可能是導(dǎo)致不同突變組間滴度差異的原因。
[Abstract]:Objective to study the single nucleotide polymorphisms (SNPs) in the exon of aquaporin 4AQP4 gene and its possible role in the pathogenesis of optic neuromyelitis. Methods from March 2010 to June 2012, 72 patients with optic neuromyelitis and 80 patients with multiple sclerosis treated in Xiangyang Hospital of Hubei Medical College were selected. The whole blood DNA was used to analyze the SNP locus of AQP4 gene, and the recombinant plasmid carrying the expression sequence of AQP4 gene was mutated by specific site-directed mutagenesis technique. The corresponding plasmids were generated according to the mutation of the corresponding SNP sites, and the corresponding plasmids were transfected into the cells by liposome transfection method to establish the anti AQP4 antibody detection cell lines. The titer of anti AQP4 antibody in serum of 6 kinds of mutant cell lines and primordial cell lines in patients with optic neuromyelitis and the titer of anti AQP4 antibody in different cell lines of optic neuromyelitis group and multiple sclerosis group were analyzed. Results six SNP loci of AQP4 gene were found in optic neuromyelitis group, located at exon 2 and exon 5, respectively, which were R108TTHI110NU E280RD280RP295RP295RP295RP295RP317M.1t3, AQP4 gene SNP locus was not found in exon 4, and AQP4 gene SNP locus was not found in multiple sclerosis group. The titer of serum anti AQP4 antibody of R108T / I110NNtr / I110NCU E280R / D281RP295RP317M cell line was significantly higher than that of the original cell line. The titer of serum anti AQP4 antibody of R108T / I110NNC280R / D281RP317M cell line was significantly higher than that of the original cell line (P0. 05, P < 0. 05, P 0. 05, P 0. 05, P 0. 05, P 0. 05, P 0. 05, P 0. 05). There were significant differences in the titer of serum AQP4 antibodies between the optic neuromyelitis group and the multiple sclerosis cell lines, R108T / I108Tr / I10NP280R / D281RP295RP317M cell lines. Conclusion the AQP4 gene SNP site may lead to the change of the primary structure of the expressed protein in patients with optic neuromyelitis and may change its antigenicity. The different intensity of antigen-antibody reaction may be the cause of the difference of titer among different mutation groups.
【作者單位】： 湖北醫(yī)藥學(xué)院附屬襄陽(yáng)醫(yī)院神經(jīng)內(nèi)科;貴州醫(yī)科大學(xué)附屬醫(yī)院神經(jīng)內(nèi)科;
【基金】：貴州省科技廳科技計(jì)劃項(xiàng)目(黔科合LG字[2011]004號(hào))
【分類(lèi)號(hào)】：R744.52

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