title: Heteroduplex analysis in hemophilia B: detection of two novel factor IX gene mutations.
abstract: Heteroduplex analysis of polymerase chain reaction (PCR)-amplified factor IX (FIX) sequences in eight hemophilia B pedigrees localized the causative hemophilia mutation to a single exon in each case. Subsequent PCR-based direct DNA sequence analysis identified two novel FIX mutations and six recurrent mutations. Three of the eight pedigrees represent sporadic hemophilia B, and direct mutation analysis facilitated hemophilia carrier diagnosis in each case.
authors.affiliation: Department of Pediatrics, Division of Hematology-Oncology, New York Hospital-Cornell Medical Center, New York, New York, USA.
authors.forename: M C
authors.initials: MC
authors.lastname: Driscoll
authors.forename: A
authors.initials: A
authors.lastname: Chu
authors.forename: M W
authors.initials: MW
authors.lastname: Hilgartner
mesh_terms: D004252:DNA Mutational Analysis; D005164:Factor IX / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006239:Haplotypes / Q000235:genetics; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis*; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D009692:Nucleic Acid Heteroduplexes; D005164:Factor IX