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NRAMP1和CISH基因位點多態(tài)現象與世居藏族結核病易感性的研究

發(fā)布時間:2018-03-09 13:37

  本文選題:結核病 切入點:易感基因 出處:《西藏大學》2015年碩士論文 論文類型:學位論文


【摘要】:目的:研究自然抗性相關巨噬細胞蛋白1(natural-resistance-associated macrophage protein 1,NRAMP1)基因的D543N多態(tài)性位點以及細胞因子誘導含SH2結構域蛋白(cytokine inducible SH2-containing protein,CISH)基因的-292、+1320多態(tài)性位點與世居藏族人群結核病易感性的關聯性。方法:采用病例-對照研究方法,選取藏族人群活動性肺結核病患者135例,世居藏族人群健康對照143人,用聚合酶鏈反應限制性片段長度多態(tài)性(PCR-RFLP)的方法,對NRAMP1基因D543N位點和CISH基因兩種(-292、+1320)位點進行基因擴增再進行基因分型,根據基因型對樣本分組,經常用統(tǒng)計學軟件處理,研究NRAMP1-D543N和CISH基因兩種(-292、+1320)位點多態(tài)性與藏族人群結核病易感性的關系。采用SPSS 19.0統(tǒng)計學軟件,數據處理率的比較采用了X2檢驗,用比值比(oddratios,OR)及其95%可信區(qū)間(Confidence interval,CI)表示相對危險度。結果:1.在世居藏族人群肺結核患者中NRAMP1基因D543N位點G/G基因型108例(80%),G/A基因型26例(19%)以及A/A基因型1例(0.7%),而在藏族人群正常對照中D543N位點G/G基因型130例(90%),基因型12例(8.4%)以及A/A基因型1例(0.7%),以G/G基因型為參照物,G/A基因型在病例組和對照組間的分布具有統(tǒng)計學意義(P0.05),G/A的OR(95%CI)為4.408(2.137,9.093)。2.在世居藏族人群肺結核患者中CISH基因-292位點A/A基因型58例(43%),T/A基因型65例(48.1%),T/T基因型12例(8.9%),藏族人群正常對照中CISH基因-292位點A/A基因型66例(46.1%),T/A基因型62例(43.4%),T/T基因型15例(10.5%)。肺結核患者中CISH基因+1320位點A/A基因型81例(60%),C/A基因型51例(37.8%),C/C基因型3例(2.2%),藏族人群正常對照中CISH-1320位點A/A基因型80例(56%),C/A基因型56例(39%),C/C基因型7例(5%)兩組中均以A/A基因型為參照組,比較組間的基因型頻率差異無顯著性。結論:(1)NRAMP1基因的D543N位點多態(tài)性與世居藏族人群肺結核易感性相關,其中G/A型可能是藏族人群肺結核的易感基因型。(2)CISH基因-292、+1320位點的多態(tài)性與世居藏族人群的肺結核易感性可能無關。
[Abstract]:Objective: to study the D543N polymorphism of natural resistance-associated macrophage protein 1 (NRAMP1) gene and its relationship with tuberculosis susceptibility in Tibetan population. Emotional relevance. Methods: a case-control study, 135 patients with active pulmonary tuberculosis in Tibetan population and 143 healthy controls were studied by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). NRAMP1 gene D543N locus and CISH gene locus were amplified and genotyped. The samples were grouped according to their genotypes and were often processed by statistical software. To study the relationship between the polymorphism of NRAMP1-D543N and CISH loci and the susceptibility to tuberculosis in Tibetan population, using SPSS 19.0 statistical software, the data processing rate was compared by X2 test. The relative risk was expressed by the ratio of oddratios ori and its 95% confidence interval.Results: 1. Among the TB patients living in Tibet, the NRAMP1 gene D543N locus G / G genotype 108 cases with the D 543N locus G / G genotype (n = 108) and the A / R A genotype in 26 cases (n = 26) and A / A genotype in 1 case, 0. 745%, while in the Tibetan population, it was found that there was no significant difference between the two genotypes. In normal controls, 130 cases of G / G genotype at D543N locus and 12 cases of genotype 8. 4) and 1 case of Ar / A genotype were compared. The distribution of G / A genotype in case group and control group was significantly higher than that in control group. The OR95CII of G / A genotype was 4.4082.137f9.093n.2in the control group and the case group, the distribution of GPRA genotype was significant in the case group and the control group. There are 58 cases of CISH gene -292 A / A genotype in the Tibetan population, including 65 cases of T / A genotype 48.1% T / T genotype 12 cases of T / T genotype, 66 cases of CISH gene -292 locus A / A genotype 66 cases of CISH gene -292 locus A / A genotype in 62 cases of 43.4% T / A genotype 15 cases of T / P / T genotype of 43.4% T / T genotype in Tibetan population, and 66 cases of CISH gene -292 locus A / A genotype of 66 cases of normal control group. There were 81 patients with CISH gene 1320 A / A genotype and 51 patients with C / A genotype with C / A genotype and 3 with C / C genotype. 80 cases with CISH-1320 locus A / A genotype and 56 cases with 39C / C genotype in Tibetan normal control group were treated with A / A / C genotype. Genotype as reference group, Conclusion the D543N polymorphism of the NRAMP1 gene is associated with the susceptibility to pulmonary tuberculosis in the native Tibetan population. Among them, the G / A genotype may be the susceptible genotype of pulmonary tuberculosis in Tibetan population. The polymorphism of -292,1320 locus of Cish gene may not be related to the susceptibility to pulmonary tuberculosis in the native Tibetan population.
【學位授予單位】:西藏大學
【學位級別】:碩士
【學位授予年份】:2015
【分類號】:R52

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