Objective: To explore the molecular mechanisms involved in the patient with congenital FV deficiency.
Methods: 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.
Results: 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.
Conclusion: G5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.