新疆维吾尔族人群剥脱综合征全基因组DNA甲基化相关基因的筛选

发布时间：2018-03-06 08:57

本文选题：剥脱综合征　切入点：甲基化　出处：《新疆医科大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:分析新疆维吾尔族人群剥脱综合征全基因组DNA甲基化状态,并筛选可能与剥脱综合征相关的CpG岛发生甲基化的差异显著的基因。方法:收集2015年11月于新疆喀什地区医院眼科住院治疗的XFS患者3例作为病例组,同期的非XFS患者3例作为对照组,分别提取外周静脉血清DNA,采用简化表达亚硫酸盐测序(Reduced Representation Bisulfite Sequencing,RRBS)技术对两组标本的DNA进行高通量测序分析,进行初步数据处理,分析并筛选出两组标本的全基因组DNA的CpG岛发生甲基化的差异显著基因。结果:1.初步绘制出了剥脱综合征外周血血清DNA全基因组甲基化谱。2.比较分析两组标本数据显示全基因组DNA的CpG岛发生甲基化的基因有45个具有显著差异性,提示此45个基因可能与剥脱综合征有关联。3.对上述45个基因进行基因富集分析显示甲基化异常改变的基因类型主要包含细胞粘附分子类、蛋白质代谢负调节类、细胞代谢类、细胞凋亡类等相关基因。4.对于45个剥脱综合征特征性基因,共有17条重要的KEGG代谢通路。结论:初步筛选出与剥脱综合征可能有一定关联的45个甲基化基因。
[Abstract]:Objective: to analyze the Xinjiang Uygur population exofoliation syndrome genome-wide DNA methylation status and gene screening and peeling off may difference syndrome associated CpG island methylation significantly. Methods: from November 2015 to the Xinjiang Kashi area hospital ophthalmology hospitalized XFS patients 3 cases as the case group, the same period in non XFS patients. 3 cases as control group, were extracted from the peripheral vein serum DNA, using the simplified expression of bisulfite sequencing (Reduced Representation Bisulfite Sequencing, RRBS) of two groups of specimens were analyzed by DNA high-throughput sequencing, preliminary data processing, analysis and selection of significant differential gene methylation of genomic DNA of the two groups were CpG island. Results: 1. preliminary draw the exfoliation syndrome in peripheral blood serum of whole genome DNA methylation profiles.2. comparative analysis of two groups of specimen data show genome DNA Methylated CpG Island 45 genes with significant differences, suggesting that these 45 genes with exfoliation syndrome with gene enrichment analysis showed that the gene type of the abnormal changes of methylation mainly includes cell adhesion molecules of the 45 genes associated with.3., negative regulation of protein metabolism, cell metabolism, cell apoptosis related gene.4. in 45 stripping characteristic gene oliation syndrome, a total of 17 important KEGG metabolic pathway. Conclusion: screened with pseudoexfoliation syndrome 45 methylation may be related to the gene.

【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R775

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