Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

British Journal of Haematology
Paola QuarelloUgo Ramenghi

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.

References

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Citations

Oct 14, 2016·Scientific Reports·Giada JuliFabrizio Loreni
Dec 6, 2018·British Journal of Haematology·Marije Bartels, Marc Bierings
Feb 23, 2020·British Journal of Haematology·Paola QuarelloUNKNOWN AIEOP working group on Diamond Blackfan Anaemia
May 7, 2020·Clinical Chemistry and Laboratory Medicine : CCLM·Dong-Sheng LianYan-Yi Wang
Jul 28, 2019·Nucleic Acids Research·Kim R KampenKim De Keersmaecker
Mar 14, 2019·Cells·Sergey O SulimaKim De Keersmaecker
Aug 14, 2020·Human Mutation·Saleh BharAlison A Bertuch
Apr 11, 2019·Analytica Chimica Acta·Kelin WangKermit K Murray
Oct 31, 2020·Journal of Pediatric Hematology/oncology·Alexander LudlowSharon A Singh

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