[The application of molecular biology to thrombosis and hemostasis]

Current biological science has been revolutionized by a series of new investigative molecular techniques developed within the last 15 years. These techniques allow the detection of gene mutations responsible for congenital diseases including thrombophilia and hemorrhagic disorders. Here, we provide a short introduction to polymerase chain reaction (PCR), single-strand conformational polymorphism (SSCP), restriction fragment length polymorphism (RFLP) and northern blot techniques and present the results of DNA sequence analyses of 4 different types of antithrombin III abnormalities and one IIB-type von Willebrand disease examined in our laboratory. In addition, we briefly summarize the gene mutations reported in patients with activated protein C-resistance, hemophilia A and hemophilia B.