[Mutation (Ala737-->Glu) in type 2A von Willebrand disease]

To identify mechanism of molecular pathogenesis and relationship between phenotype and genotype of von Willebrand disease (vWD).

Two patients from a family were studied. They were diagnosed as type 2A vWD showing prolonged bleeding time, markedly decreased vWF: Ag and FVIII: C Ag and absence of high and intermediate molecular weight form of von Willebrand factor multimers in plasma. The 28th exon of authenticity vWF gene was obtained by polymerase chain reaction and PAGE and then screened by denaturing gradient electrophoresis (DGGE). The abnormal bands were sequenced.

A heterozygous C-->A transition was identified, resulting in an ala737glu mutation in the A2 domain of the mature vWF subunit.

The new mutation will be a tool for the study of the structure and function of vWF.