Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia

QUARELLO, Paola;GARELLI, Emanuela;CARANDO, Adriana;MANCINI, CECILIA;Foglia, Luiselda;BOTTO, CARLOTTA;RAMENGHI, Ugo
Last
2016-01-01

Abstract

Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.
2016
172
5
782
785
www.blackwellpublishing.com/journals/BJH
Diagnosis; Diamond Blackfan anaemia; Mutation; RP gene; rRNA; Anemia, Diamond-Blackfan; Case-Control Studies; Electrophoresis, Capillary; Gene Deletion; Humans; Mutation; RNA, Ribosomal; Hematology; Medicine (all)
Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Mancini, Cecilia; Foglia, Luiselda; Botto, Carlotta; Farruggia, Piero; de Keersmaecker, Kim; Aspesi, Anna; Ellis, Steve R.; Dianzani, Irma; Ramenghi, Ugo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1593289
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