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目的探讨来源于Alport综合症患者尿肾状杆细胞诱导分化的多能诱导干细胞差异性表达转录组基因。方法通过高通量测序平台,寻找来源于Alport综合症患者与正常者有意义差异性表达转录组基因,差异性表达的转录组基因借助功能注释软件对其参与生物过程进行基因GO富集与KEGG信号同路分析。结果在Alport患者与正常者中分别找到26 021 874、27 551 343高质量转录组。其中,1 168个转录组基因在Alport与正常者存在有意义差异性表达,其中包括86个上调表达基因与382个下调表达基因。基因富集分析发现41个基因富集项目,包括9个细胞组成项目,2个基因分子功能项目,30个生物学过程项目。差异性表达转录组基因主要富集在细胞膜、膜系统;主要参与MAPK信号通路。结论 Alport综合症与正常者转录组基因存在差异性表达,这些差异性表达转录组基因影响细胞生物学功能,对其深入研究有助于解释Alprot发病机制、诊断与治疗。
Objective To investigate the genes differentially expressed in pluripotent stem cells differentially expressed in urine from renal tubular cells derived from patients with Alport syndrome. Methods The high-throughput sequencing platform was used to search for meaningful differentially expressed transcriptome genes from Alport syndrome patients and normal subjects. The differentially expressed transcriptome genes were enriched with GO enrichment and KEGG The same signal analysis. RESULTS: 26 021 874,27 551 343 high quality transcriptomes were found in Alport patients and normal controls respectively. Of these, 1,168 transcriptome genes were significantly differentially expressed in Alport and normal individuals, including 86 up-regulated genes and 382 down-regulated genes. Gene enrichment analysis found 41 gene enrichment projects, including 9 cell component projects, 2 gene molecular function projects, 30 biological process projects. Genes of differentially expressed transcriptome are mainly enriched in the cell membrane and membrane system; they are mainly involved in the MAPK signaling pathway. Conclusions There are some differences in gene expression between Alport syndrome and normal transcriptome. These differentially expressed transcriptome genes affect the biological functions of cells, and further studies will help explain the pathogenesis, diagnosis and treatment of Alprot.