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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Facteur XI
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Asiatiques
/
Déficit en facteur XI
/
Génétique
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Enfant
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Hematology
Année:
2004
Type:
Article
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