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.
A type mutation II (Glu117stop), induction of allele-specific mRNA degradation and FXI deficiency / G. Soldà, R. Asselta, R. Ghiotto, M. Malcovati, M.L. Tenchini, G. Castaman, S. Duga. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 90:12(2005), pp. 1716-1718.
A type mutation II (Glu117stop), induction of allele-specific mRNA degradation and FXI deficiency
G. SoldàPrimo
;R. AsseltaSecondo
;M. Malcovati;M.L. Tenchini;S. DugaUltimo
2005
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.
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