Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 119-121, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-261351
ABSTRACT
<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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Blood
/
Factor V
/
DNA Mutational Analysis
/
Polymerase Chain Reaction
/
Factor V Deficiency
/
Genetics
/
Metabolism
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2003
Type:
Article
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