HETERODUPLEX ANALYSIS IN HEMOPHILIA-B - DETECTION OF 2 NOVEL FACTOR-IX GENE-MUTATIONS

Heteroduplex analysis of polymerase chain reaction (PCR)-amplified fac tor IX (FIX) sequences in eight hemophilia B pedigrees localized the c ausative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis identified two novel FIX mutat ions and six recurrent mutations. Three of the eight pedigrees represe nt sporadic hemophilia B, and direct mutation analysis facilitated hem ophilia carrier diagnosis in each case. (C) 1996 Wiley-Liss, Inc.