成年型重症肌无力与HLA-DQA1等位基因相关性的研究

发布时间：2018-05-15 19:12

  本文选题：重症肌无力 + HLA　； 参考：《青岛大学》2017年硕士论文

【摘要】：目的:通过检测MG和健康对照者HLA分型,探讨HLA-DQA1基因与中国北方成年型重症肌无力之间相关性,为以后该病在基因水平的诊断治疗提供理论依据。方法:本实验研究采用随机-对照研究,病例组为73名临床及实验室确诊的中国北方地区MG患者,对照组为78名健康体检者,全部静脉抽血,采用聚合酶链反应-直接测序分型技术(PCR-SBT)检测HLA-DQA1基因在患者与健康人群中的分布。结果:1.MG与NC比较DQA1*0301频率明显升高,P=0.0198,P0.05,差异有统计学意义;DQA1*0501频率也升高,P=0.0096,P0.01,差异有显著统计学意义。而DQA1*0401基因,P=0.054,P0.05,差异无统计学意义。2.将MG分为眼肌型和全身型,发现眼型病人的DQA1*0301与正常对照组相比频率升高,P=0.004,P0.05,差异有统计学意义。全身型病人的DQA*0301频率,P=0.38,P0.05,差异无统计学意义。眼肌型、全身型MG病人DQA1*0401频率,P=0.1,P0.05,差异无统计学意义。眼型病人的DQA1*0501与正常对照组相比频率升高,P=0.61,P0.05,差异无统计学意义。全身型病人的DQA*0501频率,P=0.005,P0.05,差异有统计学意义。3.按性别亚型分组,DQA1*0301基因频率,P=0.299,P0.05,差异无统计学意义。DQA1*0401基因频率,P=0.48,P0.05,差异无统计学意义。DQA1*0501基因频率,P=0.8,P0.05,差异无统计学意义。4.按发病年龄为界限将MG病人分为早发型和晚发型,与对照组对比DQA1*0301基因频率,P=0.62,P0.05,差异无统计学意义。DQA1*0401基因频率,P=0.16,P0.05,差异无统计学意义。DQA1*0501基因频率,P=0.8,P0.05,差异无统计学意义。结论:1.DQA1*0301是中国北方地区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.
【学位授予单位】：青岛大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R746.1

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