Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

1 Department of Biochemistry and Molecular Biology, Ferrara University, Italy 2 Department of Experimental and Diagnostic Medicine, Section of Anatomic Pathology, Ferrara University, Italy 3 The National Hemophilia Center, Institute of Hematology and Blood Transfusion, University Hospital, Bratislav...

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Published in:Haematologica (Roma) 2008-03, Vol.93 (3), p.477-478
Main Authors: Lunghi, Barbara, Pinotti, Mirko, Maestri, Iva, Batorova, Angelika, Bernardi, Francesco
Format: Article
Language:English
Subjects:
Biomarkers
Codon, Nonsense
DNA, Complementary - genetics
Factor V - biosynthesis
Factor V - genetics
Factor V Deficiency - blood
Factor V Deficiency - genetics
Female
Frameshift Mutation
Genotype
Humans
Mutagenesis, Insertional
RNA Splice Sites - genetics
RNA Splicing
RNA Stability
RNA, Messenger - blood
RNA, Messenger - genetics
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Summary:1 Department of Biochemistry and Molecular Biology, Ferrara University, Italy 2 Department of Experimental and Diagnostic Medicine, Section of Anatomic Pathology, Ferrara University, Italy 3 The National Hemophilia Center, Institute of Hematology and Blood Transfusion, University Hospital, Bratislava, Slovakia Funding: this work was supported by grants from Telethon Italy grant (GGP05214), the Italian Ministry of Education (MIUR), Fondazione CARIFE and funding from the University of Ferrara. Key words: FV deficiency, FV mRNA, FV mutations, hemostasis, coagulation Correspondence: Francesco Bernardi, via Fossato di Mortara 74, I-44100, Ferrara, Italy. Phone: international +39.0532.974425. Fax: international +39.0532 974484. E-mail: ber{at}unife.it We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects, and correction for nonsense mediated decay, suggested the presence of 0.1% of normal factor V mRNA.
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.11952