High throughput gene sequencing analysis of peripheral blood whole exomes in patients with aplastic anemia
AIM:The whole exome from the peripheral blood of 19 patients with aplastic anemia was se-quenced,and the type and rate of gene mutation were observed to explore the pathogenesis of aplastic anemia.METH-ODS:Peripheral blood samples from 19 patients with aplastic anemia were collected,and mononuclear cells were extract-ed for whole exome sequencing.Enrichment analyses of the obtained genes were conducted using Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG).Data were statistically analyzed using IBM SPSS version 22.0,and P<0.05 indicated statistically significant differences.RESULTS:Overall,2006 gene mutations were identified in 19 patients with aplastic anemia,and 49 genes were selected based on GeneCards and OMIM databases and sequencing re-sults.A gene mutation map of the patient was drawn,which revealed a potential association of MUC5B gene with the onset of aplastic anemia,with a mutation rate of 100%.Other genes,such as ERCC6,SYNE1 and WFS1,have mutation rates exceeding 40%and may be involved in the development of aplastic anemia.In GO analysis,it was mainly related to cell movement,cytoskeleton composition,protein binding,and other functions.In the KEGG pathway analysis,the Hippo pathway and the extracellular matrix-receptor interaction pathway were the main enrichment areas.CONCLUSION:MUC5B may be a key gene that causes T cell imbalance,leading to aplastic anemia.The Hippo pathway may also partici-pate in the pathogenesis of aplastic anemia through regulatory T cells and telomerase activity.
国家科技期刊平台
NSTL
万方数据
维普
