A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency

Giulia Soldà, Rosanna Asselta, Rossella Ghiotto, Maria Luisa Tenchini, Giancarlo Castaman, Stefano Duga

Research output: Contribution to journalArticle

Abstract

The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA.

Original languageEnglish
Pages (from-to)1716-1718
Number of pages3
JournalHaematologica
Volume90
Issue number12
Publication statusPublished - Dec 2005

Keywords

  • Coagulation factor XI
  • Factor XI deficiency
  • mRNA stability
  • Nonsense-mediated mRNA decay
  • Type II mutation

ASJC Scopus subject areas

  • Hematology

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