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MPO及其基因多態(tài)與腦白質(zhì)疏松癥的研究

發(fā)布時間:2018-05-17 22:22

  本文選題:髓過氧化物酶 + 基因多態(tài)性。 參考:《皖南醫(yī)學(xué)院》2017年碩士論文


【摘要】:目的:在急性缺血性卒中患者中探討髓過氧化物酶(Myeloperoxidase,MPO)及其基因多態(tài)與腦白質(zhì)疏松癥的相關(guān)性。方法:連續(xù)選取2014年1月至2016年3月入住皖南醫(yī)學(xué)院弋磯山醫(yī)院神經(jīng)內(nèi)科470例急性缺血性卒中患者,分為LA組和非LA組,應(yīng)用酶聯(lián)免疫吸附測定法測定各組血漿MPO的濃度;利用聚合酶鏈?zhǔn)椒磻?yīng)-高分辨率熔解曲線(PCR-HRM)技術(shù),判定MPOrs2243828(A/G)和rs2107545(C/T)兩位點在入組患者中的基因型。采用卡方檢驗(X~2)和比值比檢驗(OR)分析兩位點的等位基因及基因型在中國皖南地區(qū)漢族人群中的分布情況。結(jié)果:(1)血漿MPO與LA相關(guān),且與LA的嚴(yán)重程度呈正相關(guān)。(2)rs2243828多態(tài)位點AA、AG、GG在LA組分別為196(62.4%)、99(31.5%)、19(6.1%);非LA組中分別為64(41.0%)、76(48.7%)、16(10.3%)。兩組間各基因型分布頻率比較有顯著性差異(X~2=19.369,P=0.000)。A、G等位基因頻率在LA組分別為78.2%、21.8%;非LA組中分別為65.4%、34.6%。兩組等位基因頻率比較有顯著性差異(X~2=17.722,P=0.000,OR=0.527,95%CI=0.390~0.712);同時AAAG基因型頻率比較有顯著性差異(X~2=16.962,P=0.000,OR=0.425,95%CI=0.282~0.642),AAGG基因型頻率比較亦有顯著性差異(X~2=6.948,P=0.010,OR=0.388,95%CI=0.188~0.799)。而rs2107545多態(tài)位點TT、CT、CC在LA組分別為191(60.8%)、102(32.5%)、21(6.7%);非LA組中分別為81(51.9%)、62(39.7%)、13(8.3%)。兩組間各基因型分布頻率比較無顯著性差異(X~2=3.392,P=0.184)。T、C等位基因頻率在LA組分別為77.1%、22.9%;在非LA組中分別為71.8%、28.2%。兩組等位基因頻率比較無顯著性差異(X~2=3.120,P=0.077)。同時,TT型CT型基因型頻率比較無顯著性差異(X~2=2.990,P=0.084,OR=1.433,95%CI=0.952~2.157);TT型CC型基因型頻率比較亦無顯著性差異(X~2=1.015,P=0.314,OR=1.460,95%CI=0.697~3.056)。結(jié)論:血漿MPO是LA的危險因素;MPO基因rs2243828(A/G)與LA的發(fā)病風(fēng)險相關(guān),等位基因G在LA的發(fā)生過程中起保護(hù)作用,這一作用的發(fā)揮可能與該多態(tài)位點影響了MPO基因轉(zhuǎn)錄水平,降低了酶活性有關(guān);rs2107545與LA的發(fā)病風(fēng)險無明顯相關(guān)性。
[Abstract]:Aim: to investigate the relationship between myeloperoxidase (MPO) and myeloperoxidase (MPO) gene polymorphism and leukoaraiosis in patients with acute ischemic stroke. Methods: from January 2014 to March 2016, 470 patients with acute ischemic stroke were selected and divided into LA group and non-LA group. The plasma MPO levels in each group were determined by enzyme-linked immunosorbent assay (Elisa). The genotypes of MPOrs2243828Ar / Gr and rs2107545C / T were determined by polymerase chain reaction-high resolution melting curve PCR-HRM (PCR-HRM) technique. The distribution of alleles and genotypes of the two loci in Han population in southern Anhui was analyzed by chi-square test and ratio test. Results (1) there was a positive correlation between plasma MPO and LA, and there was a positive correlation between plasma MPO and LA severity. There was significant difference in the frequency of genotype distribution between the two groups. The allele frequencies of XY 219.369 Pu 0.000G in LA group were 78.2% and 65.44% 34.6% in non-LA group, respectively. There were significant differences between the two groups in allelic frequencies of XX2, 17.722, P0. 000, OR0. 390, 0. 390 and 0. 712, and the frequencies of AAAG genotypes were significantly different. There was also a significant difference in the frequency of AAAG genotypes between the two groups. There was also a significant difference in the genotype frequencies of XX26.948P0. 010OR0. 388CI0. 1888 and 0. 18899 999. 9. The frequency of the AAGG genotypes was also significantly different between the two groups in terms of CI0. 2822 0. 6422. The frequency of the AAGG genotype was also significantly different from that of the two groups, and there was also a significant difference between the two groups in the frequency of the alleles of the two groups. In the LA group, the rs2107545 polymorphism loci were 191C 60.8 and 102C 32.5, respectively, and in the non-LA group, they were 81% 51.9%, 39.7% and 138.3%, respectively. There was no significant difference in the frequency of genotype distribution between the two groups. The allele frequencies of Xan23.392Pu 0.1844 ~ .T ~ (C) allele in LA group were 77.1% and 22.9%, respectively, and in non-LA group were 71.8% and 28.2%, respectively. There was no significant difference in allele frequency between the two groups. At the same time, there was no significant difference in the frequency of CT genotypes of the TT type. There was no significant difference in the frequency of CC genotypes between the two genotypes (XN21.015, OR1.46095CI0.697and 3.056), and there was no significant difference in the frequencies of the CC genotypes of XX21.015P014OR1.46095CII 0.697or 3.056. Conclusion: plasma MPO is a risk factor for LA. MPO gene rs2243828A / G is associated with the risk of LA. Allele G plays a protective role in the development of LA, which may play a role in influencing the transcription level of MPO gene. The decrease of enzyme activity related to rs2107545 had no significant correlation with the risk of LA.
【學(xué)位授予單位】:皖南醫(yī)學(xué)院
【學(xué)位級別】:碩士
【學(xué)位授予年份】:2017
【分類號】:R743.3

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