[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).


CONCLUSIONS
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.
Li
Z
Z
First Affiliated Hospital of Suzhou Medical College, Thrombosis and Hemostasis Research Unit, Jiangsu Institute of Hematology, Suzhou 215006.
Wang
Y
Y
Wan
H
H
D000293:Adolescent; D006720:Homozygote; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor