Abstract
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.
MeSH terms
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Biomarkers
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Codon, Nonsense*
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DNA, Complementary / genetics
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Factor V / biosynthesis
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Factor V / genetics*
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Factor V Deficiency / blood*
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Factor V Deficiency / genetics
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Female
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Frameshift Mutation*
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Genotype
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Humans
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Mutagenesis, Insertional
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RNA Splice Sites / genetics*
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RNA Splicing
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RNA Stability
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RNA, Messenger / blood*
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RNA, Messenger / genetics
Substances
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Biomarkers
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Codon, Nonsense
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DNA, Complementary
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RNA Splice Sites
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RNA, Messenger
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Factor V