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Type: Journal article
Title: Dual transcription of b2a2 and b3a2 BCR-ABL transcripts in chronic myeloid leukaemia is confined to patients with a linked polymorphism within the BCR gene
Author: Branford, S.
Hughes, T.
Rudzki, Z.
Citation: British Journal of Haematology, 2002; 117(4):875-877
Publisher: Blackwell Science Ltd
Issue Date: 2002
ISSN: 0007-1048
Abstract: We propose a mechanism for dual expression of b2a2 and b3a2 BCR-ABL in chronic myeloid leukaemia (CML). We have identified a BCR allele, present in approximately 29% of the population, which includes an adenine to guanine polymorphism in the putative branchpoint of BCR intron 13. CML patients who expressed both b2a2 and b3a2 transcripts had the allele, which was also associated with alternative transcription of the normal BCR allele. We conclude that the BCR intronic polymorphism is associated with activation of a cryptic branchpoint resulting in reduced efficiency of RNA splicing and exon 14 (b3) skipping in BCR and BCR-ABL.
Keywords: Humans; Fusion Proteins, bcr-abl; Oncogene Proteins; Proto-Oncogene Proteins; Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Alternative Splicing; Polymorphism, Genetic; Introns; Exons; Proto-Oncogene Proteins c-bcr; Protein-Tyrosine Kinases; Leukemia, Myelogenous, Chronic, BCR-ABL Positive
RMID: 0020020314
DOI: 10.1046/j.1365-2141.2002.03508.x
Appears in Collections:Medicine publications

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