Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.
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.
Chen
S H
SH
Department of Pediatrics, University of Washington, Seattle 98195.
Scott
C R
CR
Schoof
J
J
Lovrien
E W
EW
Kurachi
K
K
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
D005164:Factor IX