title: [Discovery of a novel spliceosome of ABL gene (ABL(Δexon7+35INS)) and its association with TKIs resistance in chronic myeloid leukemia].
abstract: OBJECTIVE
  To explore whether the ABL(Δexon7) and ABL(35INS) spliceosome contributed to TKIs resistance.
  
  
  METHODS
  Screening ABL(Δexon7) and ABL(35INS) in 74 normal people and 76 CML patients (53 patients in remission and 23 patients with TKIs resistance) by using polyacrylamide gel electrophoresis combined with cloning sequencing.
  
  
  RESULTS
  A novel spliceosome ABL(Δexon7+ 35INS) (ABL(Δexon7) and ABL(3)5INS existed at the same time) was identified and the mutation was detected in 8 (10.8%) of 74 normal people, 4 (7.5%) of 53 remission patients and 2 (8.7%) of 23 resistant patients. While 47 (63.5%) cases expressed ABL(Δexon7) and 8 (10.8% ) cases expressed ABL(35INS) in 74 healthy people, 30 (56.6%) cases expressed ABL(Δexon7) and 5 (9.4% ) cases expressed ABL(35INS) in 53 remission patients, 12 (52.2%) cases expressed ABL(Δexon7) and 3(13.0%) cases expressed ABL(35INS) in 23 resistant patients. Three kinds of spliceosome in all groups had no statistical difference.
  
  
  CONCLUSIONS
  ABL(Δexon7+ 35INS), ABL(Δexon7) and ABL(35INS) may be not uncommon in ABL gene and were unrelated to resistance in CML with TKIs treatment. ABL(35INS) were often accompanying with exon 7 deletion.
authors.affiliation: Department of Hematology, the Second Hospital of Shanxi Medical University, Shanxi Key Laboratory of Molecular Diagnosis and Treatment of Blood Diseases, Taiyuan 030001, China.
authors.forename: J
authors.initials: J
authors.lastname: Pan
authors.forename: Y H
authors.initials: YH
authors.lastname: Tan
authors.forename: J X
authors.initials: JX
authors.lastname: Zhao
authors.forename: X H
authors.initials: XH
authors.lastname: Chen
authors.forename: Z F
authors.initials: ZF
authors.lastname: Xu
authors.forename: J
authors.initials: J
authors.lastname: Xu
authors.forename: J M
authors.initials: JM
authors.lastname: Chang
authors.forename: F
authors.initials: F
authors.lastname: Xue
authors.forename: N
authors.initials: N
authors.lastname: Zhang
authors.forename: F G
authors.initials: FG
authors.lastname: Ren
authors.forename: Y F
authors.initials: YF
authors.lastname: Zhang
authors.forename: X J
authors.initials: XJ
authors.lastname: Wang
authors.forename: H W
authors.initials: HW
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D019008:Drug Resistance, Neoplasm; D005091:Exons; D016313:Genes, abl; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D009154:Mutation; D017384:Sequence Deletion; D017381:Spliceosomes / Q000235:genetics*