A novel mutation causes congenital factor V deficiency / 中华血液学杂志
Chinese Journal of Hematology
; (12): 455-459, 2003.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-354854
Biblioteca responsável:
WPRO
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:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sangue
/
Coagulação Sanguínea
/
Fator V
/
Deficiência do Fator V
/
Genética
/
Mutação
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
Limite:
Adolescente
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2003
Tipo de documento:
Artigo