NRAMP1和CISH基因位点多态现象与世居藏族结核病易感性的研究

发布时间：2018-03-09 13:37

本文选题：结核病　切入点：易感基因　出处：《西藏大学》2015年硕士论文　论文类型：学位论文

【摘要】：目的:研究自然抗性相关巨噬细胞蛋白1(natural-resistance-associated macrophage protein 1,NRAMP1)基因的D543N多态性位点以及细胞因子诱导含SH2结构域蛋白(cytokine inducible SH2-containing protein,CISH)基因的-292、+1320多态性位点与世居藏族人群结核病易感性的关联性。方法:采用病例-对照研究方法,选取藏族人群活动性肺结核病患者135例,世居藏族人群健康对照143人,用聚合酶链反应限制性片段长度多态性(PCR-RFLP)的方法,对NRAMP1基因D543N位点和CISH基因两种(-292、+1320)位点进行基因扩增再进行基因分型,根据基因型对样本分组,经常用统计学软件处理,研究NRAMP1-D543N和CISH基因两种(-292、+1320)位点多态性与藏族人群结核病易感性的关系。采用SPSS 19.0统计学软件,数据处理率的比较采用了X2检验,用比值比(oddratios,OR)及其95%可信区间(Confidence interval,CI)表示相对危险度。结果:1.在世居藏族人群肺结核患者中NRAMP1基因D543N位点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%),而在藏族人群正常对照中D543N位点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基因型为参照物,G/A基因型在病例组和对照组间的分布具有统计学意义(P0.05),G/A的OR(95%CI)为4.408(2.137,9.093)。2.在世居藏族人群肺结核患者中CISH基因-292位点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%),藏族人群正常对照中CISH基因-292位点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%)。肺结核患者中CISH基因+1320位点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%),藏族人群正常对照中CISH-1320位点A/A基因型80例(56%),C/A基因型56例(39%),C/C基因型7例(5%)两组中均以A/A基因型为参照组,比较组间的基因型频率差异无显著性。结论:(1)NRAMP1基因的D543N位点多态性与世居藏族人群肺结核易感性相关,其中G/A型可能是藏族人群肺结核的易感基因型。(2)CISH基因-292、+1320位点的多态性与世居藏族人群的肺结核易感性可能无关。
[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.
【学位授予单位】：西藏大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R52

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