Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 172, Issue 5, Pages 782-785Publisher
WILEY-BLACKWELL
DOI: 10.1111/bjh.13880
Keywords
Diamond Blackfan anaemia; RP gene; mutation; rRNA; diagnosis
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Funding
- Istituto Piemontese per la Ricerca sulla DBA
- Banca del Piemonte
- Telethon [GGP13177]
- Cariplo [2011-0554]
- FWO [G067015N]
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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.
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