中國河北漢族人群基質(zhì)金屬蛋白酶9基因R279Q多態(tài)性與視神經(jīng)脊髓炎及多發(fā)性硬化的相關(guān)性
本文選題:基質(zhì)金屬蛋白酶-9 切入點(diǎn):視神經(jīng)脊髓炎 出處:《河北醫(yī)科大學(xué)》2017年碩士論文 論文類型:學(xué)位論文
【摘要】:目的:探討基質(zhì)金屬蛋白酶-9(MMP-9)基因R279Q多態(tài)性與NMO及MS的關(guān)系,為兩者早期鑒別診斷提供一定的依據(jù)。方法:采用聚合酶鏈?zhǔn)椒磻?yīng)(PCR)及測序技術(shù)檢測55例NMO患者(NMO組)、37例MS患者(MS組)及65例健康體檢者(正常對(duì)照組)MMP-9基因R279Q多態(tài)性,運(yùn)用SPSS17.0軟件分析實(shí)驗(yàn)數(shù)據(jù),判別MMP-9基因R279Q多態(tài)性與NMO及MS是否相關(guān)。結(jié)果:NMO與MS組相比基因型總體分布具有統(tǒng)計(jì)學(xué)差異(P0.05),NMO與正常對(duì)照組及MS與正常對(duì)照組間基因型總體分布未見統(tǒng)計(jì)學(xué)差異(P0.05)。由于本實(shí)驗(yàn)AA基因型屬于罕見基因型,故將其與GA基因型合并,與正常對(duì)照組及MS組相比,NMO組GA+AA基因型顯著增高,差別具有統(tǒng)計(jì)學(xué)意義(P0.05);與正常對(duì)照組相比,MS組GA+AA基因型并未發(fā)現(xiàn)統(tǒng)計(jì)學(xué)差異(P0.05),各組間等位基因頻率未發(fā)現(xiàn)統(tǒng)計(jì)學(xué)差異。按性別分層后NMO組女性GA+AA基因型較正常對(duì)照組及MS組增高(P0.05),A等位基因頻率明顯高于正常對(duì)照組,差異具有統(tǒng)計(jì)學(xué)意義(P0.05),OR=2.889(95%CI1.242-8.349),MS組女性各基因型及等位基因頻率與正常對(duì)照組相比未見統(tǒng)計(jì)學(xué)差異(P0.05),各組男性不同基因型及等位基因頻率間差別未見統(tǒng)計(jì)學(xué)差異(P0.05),各組男性與女性之間不同基因型及等位基因頻率未見統(tǒng)計(jì)學(xué)差異(P0.05)。NMO組與MS組各基因型與首發(fā)年齡、發(fā)病次數(shù)間未發(fā)現(xiàn)統(tǒng)計(jì)學(xué)差異,按性別分層后仍未見統(tǒng)計(jì)學(xué)差異(P0.05)。結(jié)論:MMP-9基因R279Q多態(tài)性與中國河北漢族人群NMO易感性高度相關(guān),這種相關(guān)在女性更加明顯;且A等位基因可能增加女性罹患NMO的風(fēng)險(xiǎn);MMP-9基因R279Q多態(tài)性與NMO及MS患者首發(fā)年齡、發(fā)病次數(shù)、EDSS評(píng)分間未見明顯相關(guān)性。
[Abstract]:Objective: to investigate the association of matrix metalloproteinase-9 (MMP-9) gene R279Q polymorphism with NMO and MS. Methods: polymerase chain reaction (PCR) and sequencing techniques were used to detect the R279Q polymorphism of MMP-9 gene in 55 patients with NMO and 37 patients with MS. Using SPSS17.0 software to analyze the experimental data, Results the total genotype distribution of MMP-9 gene was significantly different from that of the control group and the normal control group, and there was no significant difference in the total genotype distribution between MS and the control group. Because the AA genotype in this experiment is a rare genotype, Compared with normal control group and MS group, GA-AA genotype in NMO group was significantly higher than that in normal control group and MS group. There was no significant difference in GA AA genotype between MS group and normal control group, but there was no significant difference in allele frequency among groups. After stratified by sex, GA AA genotype of female in NMO group was higher than that in normal control group. The frequency of P0.05A allele in normal control group and MS group was significantly higher than that in normal control group. There was no statistical difference in genotype and allele frequency between MS group and normal control group (P 0.05), but there was no statistical difference between different genotype and allele frequency among male and male (P 0.05). There was no significant difference in genotype and allele frequency between sex and female. There was no statistical difference between the incidence frequency and sex stratification. Conclusion the R279Q polymorphism of the 10% MMP-9 gene is highly correlated with the susceptibility to NMO in Hebei Han population, which is more obvious in women. There was no significant correlation between the R279Q polymorphism of MMP-9 gene and the onset age of NMO and MS.
【學(xué)位授予單位】:河北醫(yī)科大學(xué)
【學(xué)位級(jí)別】:碩士
【學(xué)位授予年份】:2017
【分類號(hào)】:R744.5
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