title: Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
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.
authors.affiliation: Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Torino, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Quarello
authors.affiliation: Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Garelli
authors.affiliation: Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
authors.forename: Adriana
authors.initials: A
authors.lastname: Carando
authors.affiliation: Department of Medical Sciences, University of Torino, Torino, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Mancini
authors.affiliation: Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
authors.forename: Luiselda
authors.initials: L
authors.lastname: Foglia
authors.affiliation: Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
authors.forename: Carlotta
authors.initials: C
authors.lastname: Botto
authors.affiliation: Paediatric Onco-Haematology Unit, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Farruggia
authors.affiliation: KU Leuven Department of Oncology, Leuven, Belgium.|VIB Centre for the Biology of Disease, Leuven, Belgium.
authors.forename: Kim
authors.initials: K
authors.lastname: De Keersmaecker
authors.affiliation: Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Aspesi
authors.affiliation: Department of Biochemistry and Molecular Biology, University of Louisville, Kentucky, USA.
authors.forename: Steve R
authors.initials: SR
authors.lastname: Ellis
authors.affiliation: Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Irma
authors.initials: I
authors.lastname: Dianzani
authors.affiliation: Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
mesh_terms: D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics; D016022:Case-Control Studies; D019075:Electrophoresis, Capillary / Q000379:methods; D017353:Gene Deletion; D006801:Humans; D009154:Mutation; D012335:RNA, Ribosomal / Q000235:genetics*
chemical_list: D012335:RNA, Ribosomal
keywords: Diamond Blackfan anaemia; RP gene; diagnosis; mutation; rRNA