Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency / 中华血液学杂志
Chinese Journal of Hematology
; (12): 126-128, 2003.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-354904
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.</p><p><b>METHODS</b>The peripheral blood samples were collected from the proband and her family members and the plasma FXIC and FXIAg were assayed. All the exons and their adjacent intron sequences of factor XI were amplified with PCR and sequenced thereafter.</p><p><b>RESULTS</b>Two novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.</p><p><b>CONCLUSION</b>The compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fator XI
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Códon sem Sentido
/
Povo Asiático
/
Deficiência do Fator XI
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2003
Tipo de documento:
Artigo