title: A novel BCR-ABL transcript (e8a2) with the insertion of an inverted sequence of ABL intron 1b in a patient with Philadelphia-positive chronic myeloid leukaemia.
abstract: An atypical BCR-ABL transcript in a patient with Philadelphia (Ph)-positive chronic myeloid leukaemia (CML) was detected using a long polymerase chain reaction technique. Sequence analysis revealed a joining of BCR exon e8 and ABL exon a2, with a 55-base pair (bp) insert of an inverted sequence of ABL intron 1b between them, giving rise to an in frame e8a2 BCR-ABL transcript. This is the first report of a BCR-ABL transcript with the insertion of an inverted sequence. The long PCR technique is a useful screen for atypical BCR-ABL transcripts not detected by standard techniques.
authors.affiliation: Division of Molecular Pathology, Institute of Medical and Veterinary Science and Leukaemia Research Unit, Hanson Centre for Cancer Research, South Australia. susan.branford@imvs.sa.gov.au
authors.forename: S
authors.initials: S
authors.lastname: Branford
authors.forename: Z
authors.initials: Z
authors.lastname: Rudzki
authors.forename: T P
authors.initials: TP
authors.lastname: Hughes
mesh_terms: D019677:Artificial Gene Fusion; D004587:Electrophoresis, Agar Gel; D005091:Exons; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl