Identifying Genes Associated With Proliferation, Immunity and Thrombosis in Paroxysmal Nocturnal Haemoglobinuria.

ABSTRACT: PIGA mutation cannot fully explain the proliferative advantage of abnormal clones and thrombosis tendency in paroxysmal nocturnal haemoglobinuria (PNH), and additional genes may play a role, justifying further investigation. CD59+ and CD59- peripheral blood mononuclear cells from six PNH patients were sorted and subjected to whole-exon sequencing (WES) and whole-transcriptome sequencing respectively. Six age- and sex-matched healthy volunteers were enrolled as controls. Genes related to proliferation, immunity and thrombosis were selected by gene ontology (GO) analysis. The selected gene mutant alleles were then identified in the WES results for 40 patients and verified by the Sanger method in another 40 PNH patients. CD59+ and CD59- peripheral blood mononuclear cells from seven patients w

SUBMITTER: Du Y 

PROVIDER: S-EPMC11640899 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature