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[Study on genetic mutations of the vWF in type 2A von Willebrand disease]
1The First Affiliated Hospital of Suzhou Medical College, Thrombosis and Hemostasis Research Unit, Jiangsu Institute of Hematology, Suzhou, P. R. China. wyczhf@public.sz.js.cn
Objective:
To study the molecular pathological mechanism of the type 2A von Willebrand disease(vWD) and the relationship of the phenotypes with genotypes.
Methods:
A total of 126 patients with the hereditary hemorrhagic disease were examined using bleeding time, vWF:Ag, FVIII:CAg, ristocentin induced platelet agglutination assay(RIPA) and multimer analysis of plasma. The exon 28 of authenticity vWF gene was studied by PCR, denaturing gradient gel electrophoresis(DGGE) and sequencing in the type 2A vWD.
Results:
Fourteen cases were diagnosed as type 2A vWD. Four cases of point mutations resulting in single animo acid substitutions, Arg611His, Ala737Glu, Arg834Trp, were identified in 3 families of type 2A vWD. Ala737Glu substitution in vWF is caused by a novel missense mutation.
Conclusion:
The molecular pathological mechanism of the type 2A vWD is very variant.