Detection of gene mutation and genetic analysis of a patient with type 3 von Willebrand disease

OBJECTIVE: To identify gene mutations in patients with type 3 von Willebrand disease. METHODS: The encoding region of von Willebrand factor (vWF) gene were screened by polymerase chain reaction and denaturing gradient gel electrophoresis (PCR-DGGE). RESULTS AND CONCLUSION: The fragment of vWF gene exon 3 from a patient with type 3 von Willebrand disease displayed an abnormal melting behavior. Direct sequencing demonstrated a homozygous C-->A transition at nucleotide 212 in vWF gene resulting in the substitution of a stop codon for Ser71. The parents of the patient were heterozygous for this mutation as identified by PCR-DGGE and restriction endonuclease digestion analysis.