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
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Sang
/
Proaccélérine
/
Analyse de mutations d'ADN
/
Réaction de polymérisation en chaîne
/
Déficit en facteur V
/
Génétique
/
Métabolisme
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2003
Type:
Article
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