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

Haematologica. 2008 Mar;93(3):477-8. doi: 10.3324/haematol.11952.

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.

Publication types

  • Clinical Trial
  • Letter

MeSH terms

  • 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

Substances

  • Biomarkers
  • Codon, Nonsense
  • DNA, Complementary
  • RNA Splice Sites
  • RNA, Messenger
  • Factor V