A novel mutation causes congenital factor V deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 455-459, 2003.
Artículo
en Chino
| WPRIM
| ID: wpr-354854
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the gene defect in a hereditary coagulation factor V (FV) deficiency family.</p><p><b>METHODS</b>The plasma FV actigen was measured by one-stage clotting assay. The FV antigen was assayed by Biotin-Avidin enzyme linked immunosorbent assay (BA-ELISA). The full length of exon 1 to exon 25 and the 5' untranslated sequence of FV genomic DNA were analyzed by polymerase chain reaction (PCR) and direct sequencing of the amplified fragments, meanwhile the defect was identified by T/A cloning sequencing.</p><p><b>RESULTS</b>The plasma coagulant activity and amount of FV of the proband were marked deficient (1% and 1.54%, respectively). DNA sequence analysis for the proband revealed a causative mutation in a heterozygous status. It was one base pair deletion in exon 4 at nucleotide 675 inherited from her mother.</p><p><b>CONCLUSIONS</b>A novel mutation in the FV gene was identified in the proband with congenital FV deficiency. The mutation was 675delA in exon 4 resulting in a frameshift and a premature termination codon.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sangre
/
Coagulación Sanguínea
/
Factor V
/
Deficiencia del Factor V
/
Genética
/
Mutación
Tipo de estudio:
Estudio de etiología
/
Estudio pronóstico
Límite:
Adolescente
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Hematology
Año:
2003
Tipo del documento:
Artículo
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