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