Identification of twenty-one new mutations in the factor IX gene by SSCP analysis

In this study we have analyzed the factor IX gene from 84 hemophilia B pati ents of Spanish origin, It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequenci ng of all fragments showing abnormal migration. In 76 patients (90.4%), it was possible to identify molecular alterations leading to the appearance of the disease, Twenty-one new mutations were identified, including 13 missen se mutations, two nonsense mutations, three splice-site mutations, one fram eshift deletion, one frameshift insertion, and one non frameshift deletion. The approach appears to be very suitable for molecular diagnosis of hemoph ilia B. Hum Mutat 13:160-165, 1999. (C) 1999 Wiley-Liss, Inc.