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.
Artículo
en Chino
| 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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Sangre
/
Factor V
/
Análisis Mutacional de ADN
/
Reacción en Cadena de la Polimerasa
/
Deficiencia del Factor V
/
Genética
/
Metabolismo
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Hematology
Año:
2003
Tipo del documento:
Artículo
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