Phenotype And Genotype Analysis Of Von Willebrand Disease

Objective:To analysis Phenotype and genotype analysis in a case of suspected vonWillebrand disease (von Willebrand disease, vWD) patient and his family.Methods:FVIII:C、vWF:RCo、vWF:Ag、RIPAand multimeric assay were performed on thepatient plasma.DNAcorresponding to approximately2000base pairs of the vWF promoter,exon1to52and intron/exon boundaries of von Willebrand factor gene from the patientwere amplified by polymerase chain reaction (PCR) and sequenced to search for putativemutation.Results:The patient has decreased vWF levels、vWF:RCo、FVIII:C，roulhly normal vWFmultimer pattern and the vWF:RCo to vWF:Ag ratio more than0.7. The sequencing ofgenomic DNA identified a4253C>T(R1315C) missense mutatio in the vWF gene from thepatient.Conclusions:The4253C>T(R1315C) missense mutation was primary responsible for thevWD of the patient.