本文關(guān)鍵詞： 麻風(fēng) 線粒體 OPA1 遺傳易感性　出處：《昆明醫(yī)科大學(xué)》2015年碩士論文　論文類型：學(xué)位論文

【摘要】：目的：1.探討麻風(fēng)患者與線粒體基因OPA1的發(fā)病的分子機(jī)制。2.驗(yàn)證麻風(fēng)與線粒體0PA1基因位點(diǎn)突變之間關(guān)聯(lián)性推測(cè)。3.了解OPA1基因突變與麻風(fēng)臨床表型、外顯率和表現(xiàn)度的影響,為尋找新的麻風(fēng)易感基因,提供基礎(chǔ)理論依據(jù)。方法：1.整群抽樣抽取云南省玉溪市麻風(fēng)患者及正常人群外周血液樣本。對(duì)照組583例,年齡范圍3-91歲,均通過采集和檢測(cè)確認(rèn)所有對(duì)照樣本均無麻風(fēng)、HIV和結(jié)核的感染史。麻風(fēng)病例組527人,病例年齡范圍17-98歲,其中病例含MB型279例(包括109例LL、145例BL和25例BB型麻風(fēng)),PB型248例(包括175例TT和73例BT型麻風(fēng))。2.使用各種生物分析軟件分析OPA1基因以及線粒體基因組的測(cè)序結(jié)果,找出多肽性位點(diǎn)和突變位點(diǎn),分析其對(duì)線粒體功能的影響。3.整理分析突變位點(diǎn)以及線粒體OPA1與麻風(fēng)的遺傳特征和臨床表型之間的相關(guān)性。結(jié)果：1. SNP rs414237顯示與麻風(fēng)病本身(P=0.004)顯著的相關(guān)性,特別是與LL亞型(P=0.002)的相關(guān)性更強(qiáng)。2. SNP, rs9838374與多菌型麻風(fēng)呈正相關(guān)(P=0.006),該位點(diǎn)也呈現(xiàn)出與LL型更相關(guān)的趨勢(shì)(P=0.003)。結(jié)論：麻風(fēng)患者線粒體OPA1基因的表達(dá)水平,在LL型中尤為顯著,表明了線粒體0PA1在麻風(fēng)患者有著易感性。提示線粒體相關(guān)基因OPA1在線粒體穩(wěn)態(tài)的維持等多方面有著重要功能,也對(duì)麻風(fēng)的發(fā)病有著顯著影響。
[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.
【學(xué)位授予單位】：昆明醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2015
【分類號(hào)】：R755

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

1 李玉葉;黃顯瓊;李素芬;陳文穎;;界線類偏瘤型麻風(fēng)誤診為痤瘡1例[J];中國皮膚性病學(xué)雜志;2011年02期

，

本文編號(hào)：1445088