Gene mutation analysis of one case with von willebrand disease type 2A / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1040-1042, 2009.
Article
Dans Chinois
| WPRIM
| ID: wpr-343354
ABSTRACT
Objective of this study was to identify gene mutation involved in a patient with type 2A von Willebrand disease (vWD). The bleeding time, vWFAg, FVIIIC, RIPA and multimeric assay were used for phenotypic diagnosis. All of the 52 exons and the exon-intron boundaries of vWF gene were amplified by polymerase chain reaction (PCR) and direct sequencing was carried out. The results indicated that the levels of vWFAg, FVIIIC and RIPA decreased in this patient, the vWF multimer with high and intermediate molecular weight was absent in plasma. The sequencing of genomic DNA revealed a C4738G (L1580V) missense mutation in the vWF gene from the patient. In conclusion, the C4738G (L1580V) missense mutation effecting the form of vWF multimer was responsible to molecular mechanism in this patient with vWD.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Facteur de von Willebrand
/
Mutation faux-sens
/
Maladie de von Willebrand de type 2
/
Génétique
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Journal of Experimental Hematology
Année:
2009
Type:
Article
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