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

S. Branford, Z. Rudzki, Timothy Hughes

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33 Citations (Scopus)

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.

LanguageEnglish
Pages635-637
Number of pages3
JournalBritish Journal of Haematology
Volume109
Issue number3
DOIs
Publication statusPublished - 10 Jul 2000
Externally publishedYes

Keywords

  • BCR-ABL
  • CML
  • Cryptic splice site
  • Inversion
  • Long PCR

ASJC Scopus subject areas

  • Hematology

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