Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency.
- Author:
Wei-jun FU
1
;
Jian HOU
;
Dong-xing WANG
;
Run-quan YU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; DNA Mutational Analysis; Factor V; genetics; metabolism; Factor V Deficiency; blood; congenital; genetics; Female; Humans; Male; Middle Aged; Mutation; Pedigree; Polymerase Chain Reaction
- From: Chinese Journal of Hematology 2003;24(3):119-121
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the molecular mechanisms involved in the patient with congenital FV deficiency.
METHODSActivity 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.
RESULTSA 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.
CONCLUSIONG5729T mutation of FV gene is related to the pathogenesis of congenital FV deficiency.
