Study On Childhood Immune Thrombocytopenia Based On Whole Exon Sequencing Technology And GEO Gene Co-expression Network

Objective: Study the genes associated with the clinical traits of immune thrombocytopenia(ITP),and to compare these gene variations with the result of WGCNA network,analysis of the important genes related to the clinical traits on exons,and to explore the relationship between variation genes in children and the incidence of thrombocytopenia in children.Method: WGCNA analysis(calculated by R software)was performed on a total of 13 series with the keyword "ITP" in the GEO database of the US NCBI database,and the data of more than 15 samples were studied on the WGCNA co-expression network to find the co-expressed genes.The Cytoscape software was used to analyze the Hub gene.DNA was extracted from the peripheral blood of 20 children with thrombocytopenia collected clinically and then sequenced by whole exons to obtain the data of all exon mutations,and then verify the possible mutation sites.The genes found by WGCNA are compared with the whole exon sequencing results to see if there is a statistical difference between the frequency of mutation of the genes expressing the cluster in the GEO data and the frequency of compilation in the control group.Results: 1.WGCNA successfully analyzed the clustering network of GSE23754 co-expressed genes,and the violent genes found the relevant GO \KEGG functional pathway;2.Successfully performed exon on the DNA samples of children with thrombocytopenia submitted for examination Sequencing found three variant genes "PTCH1","ITGBL1" and "SERPINE1" related to ITP pathogenesis.Conclusion: 1."SERPINE1" gene rs6092 G>A mutation is related to the onset of fetal and neonatal alloimmune thrombocytopenia.2.The non-synonymous mutations of "PTCH1","ITGBL1" and "SERPINE1" genes are positively correlated with ITP;3.After the GEO data be analysis by WGCNA co-expressed gene network research and exon sequencing gene comparison,it is found that "SERPINE1" The variation is related to the prognosis of the Fetal and neonatal alloimmune thrombocytopenia(FNAIT)or chronic ITP.