[Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency].
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.


CONCLUSIONS
G5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.
Fu
Wei-jun
WJ
Department of Hematology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China.
Hou
Jian
J
Wang
Dong-xing
DX
Yu
Run-quan
RQ
D000328:Adult; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000097:blood / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction
D005165:Factor V