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

Br J Haematol. 2000 Jun;109(3):635-7. doi: 10.1046/j.1365-2141.2000.02042.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Artificial Gene Fusion
  • Electrophoresis, Agar Gel
  • Exons
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male
  • Middle Aged
  • Polymerase Chain Reaction / methods
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription, Genetic

Substances

  • Fusion Proteins, bcr-abl