Objective: The C1423T polymorphism in von Willebrand factor-cleaving protease (vWF-cp) gene affects its enzyme activity. The present study was to investigate the polymorphism frequency among Chinese Han population and its relevance to arterial thrombotic disorders.
Methods: An amplified 366 bp fragment of human vWF-cp gene was analyzed by Rsa I restriction assay in 400 unrelated individuals including 150 with acute ischemic stroke (AIS), 103 with acute myocardial infarction (AMI) and 147 age- and gender-matched healthy controls. The resulting products were analyzed by 12% polyacrylamide gels electrophoresis and stained with ethidium bromide.
Results: Twelve cases were C1423T heterozygous, the C1423T frequencies were 98.5% and 1.5%, and the heterozygosity and allele frequency were 3% and 1.5%, respectively, which were remarkably lower than those reported in Japanese population. No 1423T/T homozygote was found. Besides, there was no significant difference between healthy controls and patients with thrombotic disorders.
Conclusion: C1423T polymorphism is low frequency in both controls and patients of Han population.