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Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
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.
Afiliação
  • Quarello P; Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Torino, Italy.
  • Garelli E; Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
  • Carando A; Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
  • Mancini C; Department of Medical Sciences, University of Torino, Torino, Italy.
  • Foglia L; Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
  • Botto C; Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
  • Farruggia P; Paediatric Onco-Haematology Unit, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
  • De Keersmaecker K; KU Leuven Department of Oncology, Leuven, Belgium.
  • Aspesi A; VIB Centre for the Biology of Disease, Leuven, Belgium.
  • Ellis SR; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Dianzani I; Department of Biochemistry and Molecular Biology, University of Louisville, Kentucky, USA.
  • Ramenghi U; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
Br J Haematol ; 172(5): 782-5, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26763766
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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Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Ribossômico / Anemia de Diamond-Blackfan Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Ribossômico / Anemia de Diamond-Blackfan Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Itália