von Willebrand disease in China.

PURPOSE: To review the molecular pathogenesis in Chinese patients with von Willebrand disease (vWD) and polymorphisms of von Willebrand factor (vWF) in Chinese population.

DATA SOURCES: Both Chinese and English language literature search using MEDLINE (1985-1998), and original articles published in main Chinese and international journals.

STUDY SELECTION AND DATA EXTRACTION: After reviewing of the literature, 19 articles of them were selected that specifically addressed the stated purpose.

RESULTS

The molecular pathogenesis of vWD was variant. Six cases of point mutation have been found in Chinese patients with vWD. The system of site-directed mutagenesis and expression of vWF gene was constructed. The polymorphisms of vWF gene are very different between Chinese and Gaucasians.

CONCLUSION

Combining to gene mutant in vWD patients, the use of site- directed mutagenesis and expression of vWF will help to understand the vWF function. The polymorphisms of vWF gene are useful marker in Chinese for carrier detection and prenatal diagnosis of vWD.