[Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency].
Zhonghua Xue Ye Xue Za Zhi
; 24(3): 119-21, 2003 Mar.
Article
em Zh
| MEDLINE
| ID: mdl-12697120
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Fator V
/
Deficiência do Fator V
/
Mutação
Idioma:
Zh
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
China