本文選題：重癥肌無力 + HLA��； 參考：《青島大學(xué)》2017年碩士論文

【摘要】：目的:通過檢測MG和健康對照者HLA分型,探討HLA-DQA1基因與中國北方成年型重癥肌無力之間相關(guān)性,為以后該病在基因水平的診斷治療提供理論依據(jù)。方法:本實驗研究采用隨機(jī)-對照研究,病例組為73名臨床及實驗室確診的中國北方地區(qū)MG患者,對照組為78名健康體檢者,全部靜脈抽血,采用聚合酶鏈反應(yīng)-直接測序分型技術(shù)(PCR-SBT)檢測HLA-DQA1基因在患者與健康人群中的分布。結(jié)果:1.MG與NC比較DQA1*0301頻率明顯升高,P=0.0198,P0.05,差異有統(tǒng)計學(xué)意義;DQA1*0501頻率也升高,P=0.0096,P0.01,差異有顯著統(tǒng)計學(xué)意義。而DQA1*0401基因,P=0.054,P0.05,差異無統(tǒng)計學(xué)意義。2.將MG分為眼肌型和全身型,發(fā)現(xiàn)眼型病人的DQA1*0301與正常對照組相比頻率升高,P=0.004,P0.05,差異有統(tǒng)計學(xué)意義。全身型病人的DQA*0301頻率,P=0.38,P0.05,差異無統(tǒng)計學(xué)意義。眼肌型、全身型MG病人DQA1*0401頻率,P=0.1,P0.05,差異無統(tǒng)計學(xué)意義。眼型病人的DQA1*0501與正常對照組相比頻率升高,P=0.61,P0.05,差異無統(tǒng)計學(xué)意義。全身型病人的DQA*0501頻率,P=0.005,P0.05,差異有統(tǒng)計學(xué)意義。3.按性別亞型分組,DQA1*0301基因頻率,P=0.299,P0.05,差異無統(tǒng)計學(xué)意義。DQA1*0401基因頻率,P=0.48,P0.05,差異無統(tǒng)計學(xué)意義。DQA1*0501基因頻率,P=0.8,P0.05,差異無統(tǒng)計學(xué)意義。4.按發(fā)病年齡為界限將MG病人分為早發(fā)型和晚發(fā)型,與對照組對比DQA1*0301基因頻率,P=0.62,P0.05,差異無統(tǒng)計學(xué)意義。DQA1*0401基因頻率,P=0.16,P0.05,差異無統(tǒng)計學(xué)意義。DQA1*0501基因頻率,P=0.8,P0.05,差異無統(tǒng)計學(xué)意義。結(jié)論:1.DQA1*0301是中國北方地區(qū)MG的易感基因,尤其是眼肌型MG的易感基因。2.DQA1*0501是全身型MG的易感基因。
[Abstract]:Objective: to investigate the relationship between HLA-DQA1 gene and adult myasthenia gravis in northern China by detecting the HLA typing of MG and healthy controls, and to provide theoretical basis for the diagnosis and treatment of the disease at the gene level. Methods: a randomized controlled study was conducted in which 73 patients with MG in northern China and 78 healthy controls were enrolled in the case group. Polymerase chain reaction-direct sequencing typing technique was used to detect the distribution of HLA-DQA1 gene in patients and healthy people. Results 1. The frequency of DQA1*0301 in MG was significantly higher than that in NC, and the frequency of DQA1 / 0501 was significantly higher than that of NC. The difference was statistically significant. However, there was no significant difference in DQA1*0401 gene (P0. 054) and P0. 05 (P 0. 05). MG was divided into ocular muscle type and systemic type. The frequency of DQA1*0301 in eye type patients was significantly higher than that in normal control group (P < 0.05). There was no significant difference in DQA*0301 frequency of patients with systemic type (P < 0. 05). There was no significant difference in the frequency of DQA1*0401 between myometrial and systemic MG patients. The frequency of DQA1*0501 in the eye type patients was higher than that in the normal control group (P 0. 61 P 0. 05), and there was no significant difference between the two groups. The frequency of DQA*0501 in patients with systemic type was 0.005 and P0.05, the difference was statistically significant. The frequency of DQA1C0301 gene was 0.299 and P0.05, the difference was not statistically significant. There was no significant difference in the frequency of DQA1C0401 gene. There was no significant difference in the frequency of DQA1C0301 gene. There was no significant difference in the frequency of DQA1C0501 gene and the frequency of DQA1C0501 gene. There was no significant difference in the frequency of DQA1C0501 gene. The patients with MG were divided into early onset and late onset according to the age of onset. Compared with the control group, the frequency of DQA1*0301 gene was 0.62% P0.05, the difference was not statistically significant. There was no significant difference in the frequency of DQA1-0401 gene (P < 0.16) or P0.05. There was no significant difference in the frequency of DQA1-0501 gene (P0. 8P0. 05). Conclusion: 1. DQA1C0301 is the susceptible gene of MG in northern China, especially the susceptible gene of ocular muscle MG. 2. DQA1O501 is a susceptible gene of systemic MG.
【學(xué)位授予單位】：青島大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2017
【分類號】：R746.1

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