OPA1基因多态性与云南玉溪地区麻风人群的遗传易感性研究

发布时间：2018-01-19 18:42

本文关键词： 麻风线粒体 OPA1 遗传易感性　出处：《昆明医科大学》2015年硕士论文　论文类型：学位论文

【摘要】：目的：1.探讨麻风患者与线粒体基因OPA1的发病的分子机制。2.验证麻风与线粒体0PA1基因位点突变之间关联性推测。3.了解OPA1基因突变与麻风临床表型、外显率和表现度的影响,为寻找新的麻风易感基因,提供基础理论依据。方法：1.整群抽样抽取云南省玉溪市麻风患者及正常人群外周血液样本。对照组583例,年龄范围3-91岁,均通过采集和检测确认所有对照样本均无麻风、HIV和结核的感染史。麻风病例组527人,病例年龄范围17-98岁,其中病例含MB型279例(包括109例LL、145例BL和25例BB型麻风),PB型248例(包括175例TT和73例BT型麻风)。2.使用各种生物分析软件分析OPA1基因以及线粒体基因组的测序结果,找出多肽性位点和突变位点,分析其对线粒体功能的影响。3.整理分析突变位点以及线粒体OPA1与麻风的遗传特征和临床表型之间的相关性。结果：1. SNP rs414237显示与麻风病本身(P=0.004)显著的相关性,特别是与LL亚型(P=0.002)的相关性更强。2. SNP, rs9838374与多菌型麻风呈正相关(P=0.006),该位点也呈现出与LL型更相关的趋势(P=0.003)。结论：麻风患者线粒体OPA1基因的表达水平,在LL型中尤为显著,表明了线粒体0PA1在麻风患者有着易感性。提示线粒体相关基因OPA1在线粒体稳态的维持等多方面有着重要功能,也对麻风的发病有着显著影响。
[Abstract]:Objective:. 1. To investigate the molecular mechanism of the pathogenesis of mitochondrial OPA1 in leprosy patients. 2. To verify the correlation between leprosy and mitochondrial 0PA1 gene mutation. 3. To understand the relationship between OPA1 gene mutation and leprosy. Clinical phenotype. In order to find new leprosy susceptible genes, the effects of explicit rate and phenotype were investigated. To provide basic theoretical basis. Methods 1. Cluster sampling samples of peripheral blood fluid from leprosy patients and normal population in Yuxi City, Yunnan Province. 583 cases in control group, aged 3-91 years. All the control samples were confirmed to have no history of infection of leprosy HIV and tuberculosis by collecting and testing. 527 patients in leprosy group were in the age range of 17-98 years. Among them 279 cases included MB type (including 109 cases of LLN 145 cases of BL and 25 cases of BB leprosy). There were 248 cases of PB type (including 175 cases of TT and 73 cases of BT type of leprosy). The sequencing results of OPA1 gene and mitochondrial genome were analyzed by various biological analysis software. Identify polypeptide sites and mutation sites. Analysis of its effect on mitochondrial function .3.The analysis of mutation sites and the relationship between mitochondrial OPA1 and the genetic characteristics and clinical phenotypes of leprosy. Results: 1. SNP. Rs414237 shows leprosy itself. P 0. 004). In particular, there was a stronger correlation with LL subtype P0. 002). SNP. rs9838374 was positively correlated with aseptic leprosy (P0. 006). Conclusion: the level of mitochondrial OPA1 gene expression in leprosy patients is especially significant in LL type. The results suggest that mitochondrial 0PA1 is susceptible to leprosy, suggesting that mitochondrial related gene OPA1 plays an important role in maintaining mitochondrial homeostasis, and has a significant effect on the pathogenesis of leprosy.
【学位授予单位】：昆明医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R755

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