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Ribosomal RNA analysis in the diagnosis of Diamond‐Blackfan Anaemia
Author(s) -
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
Publication year - 2016
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.13880
Subject(s) - ribosomal rna , diamond–blackfan anemia , eukaryotic large ribosomal subunit , 28s ribosomal rna , 18s ribosomal rna , ribosomal protein , eukaryotic small ribosomal subunit , 5s ribosomal rna , biology , microbiology and biotechnology , rna , ribosome , genetics , gene
Summary 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 ( RP s) of the small ribosomal subunit. In contrast, patients with mutated RP s of the large ribosomal subunit ( RPL s) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.