title: A novel haemophilia B defect due to partial duplication of the factor IX gene.
abstract: A patient with mild FIX deficiency was found to have partial duplication of the 3' region of the gene, giving, in addition to the a normal gene, another piece of DNA containing exons 5', 6', 7' and 8' and the intervening sequences. Cloning and sequencing of the junction region revealed that crossover occurred at nt 31927 in the 3' untranslated region of one chromosome/chromatid and nt 10640 in intron 4 of the other. No homology or topoisomerase specific sequences were observed in the crossover region. PCR and sequencing of illegitimate FIX transcripts from the patient's lymphocytes showed at least three different species of mRNAs. Translation of two of these 'novel' mRNAs should result in truncated proteins. Possibilities for the splicing of the mature mRNA are offered to explain the translation of a normal-size FIX protein, which was the only product demonstrated on Western blot analysis.
authors.affiliation: University Department of Medicine, Queen Mary Hospital, Hong Kong.
authors.forename: V
authors.initials: V
authors.lastname: Chan
authors.forename: P
authors.initials: P
authors.lastname: Au
authors.forename: P
authors.initials: P
authors.lastname: Lau
authors.forename: T K
authors.initials: TK
authors.lastname: Chan
mesh_terms: D001483:Base Sequence; D015153:Blotting, Western; D004247:DNA / Q000737:chemistry; D004251:DNA Transposable Elements / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005164:Factor IX / Q000032:analysis / Q000235:genetics* / Q000276:immunology; D002836:Hemophilia B / Q000097:blood / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000737:chemistry
chemical_list: D004251:DNA Transposable Elements; D012333:RNA, Messenger; D005164:Factor IX; D004247:DNA