Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency.
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.
Lunghi
Barbara
B
Pinotti
Mirko
M
Maestri
Iva
I
Batorova
Angelika
A
Bernardi
Francesco
F
D015415:Biomarkers; D018389:Codon, Nonsense; D018076:DNA, Complementary / Q000235:genetics; D005165:Factor V / Q000096:biosynthesis / Q000235:genetics*; D005166:Factor V Deficiency / Q000097:blood* / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D016254:Mutagenesis, Insertional; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing; D020871:RNA Stability; D012333:RNA, Messenger / Q000097:blood* / Q000235:genetics
D015415:Biomarkers; D018389:Codon, Nonsense; D018076:DNA, Complementary; D022821:RNA Splice Sites; D012333:RNA, Messenger; D005165:Factor V