title: Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.
abstract: Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp fragment in the first part of exon VIII of the factor IX gene was amplified and sequenced. A single-base-pair substitution of C----T at the nucleotide sequence 30875 was found which resulted in a nonsense mutation (TGA) and terminated the protein synthesis of factor IX at amino acid residue 252. The single-base change occurred as a classic CG dinucleotide alteration to TG (or CA), a common mechanism for point mutations in mammals.
authors.affiliation: Department of Pediatrics, University of Washington, Seattle 98195.
authors.forename: S H
authors.initials: SH
authors.lastname: Chen
authors.forename: C R
authors.initials: CR
authors.lastname: Scott
authors.forename: J
authors.initials: J
authors.lastname: Schoof
authors.forename: E W
authors.initials: EW
authors.lastname: Lovrien
authors.forename: K
authors.initials: K
authors.lastname: Kurachi
mesh_terms: D001483:Base Sequence; D005164:Factor IX / Q000235:genetics*; D005784:Gene Amplification; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D014176:Protein Biosynthesis; D014960:X Chromosome
chemical_list: D005164:Factor IX