Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the molecular mechanisms involved in the patient with congenital FV deficiency.</p><p><b>METHODS</b>Activity of FV was determined by biochemical method. The PCR products of FV gene was analysed by directly sequencing or sequencing after cloned into T-vector. The mutative FV gene was analysed by restriction enzyme analysis in the proband and her family members.</p><p><b>RESULTS</b>A homozygous missense mutation G5729T resulting in Gly1880Val was revealed in the proband and confirmed in the family screening. Structure-function studies of the factor V mutants (Gly1880Val) demonstrated the importance of Gly1880 for structural stability of the Factor V.</p><p><b>CONCLUSION</b>G5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.</p>