FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 132-135, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-291433
ABSTRACT
<p><b>OBJECTIVES</b>To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.</p><p><b>METHODS</b>The peripheral blood samples were collected from the probands and their family members and the plasma FXIC and FXIAg were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter.</p><p><b>RESULTS</b>A nonsense mutation Trp228stop and two missense mutations Glu323Lys and Leu172Pro were disclosed in the two pedigrees. All mutations existed in a heterozygous state.</p><p><b>CONCLUSION</b>The FXI gene mutations Trp228stop, Glu323Lys and Leu172Pro attribute to the pathogenesis of the congenital factor XI deficiency in Chinese. The Leu172Pro is identified for the first time.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Fator XI
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Povo Asiático
/
Deficiência do Fator XI
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2004
Tipo de documento:
Artigo
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