title: Dual transcripts ofBCR-ABL& different polymorphisms in chronic myeloid leukaemia patients.
abstract: OBJECTIVE
  Chronic myeloid leukaemia is (CML) characterized by the presence of a hallmark chromosomal translocation, the Philadelphia chromosome. Although there are many reports available regarding the different variants of BCR-ABL in CML, we studied the co-expression of e13a2 and e14a2 transcripts and a few polymorphisms in CML patients.
  
  
  METHODS
  Molecular genetics approach was adapted to screen for polymorphisms, mutation and translocation in BCR, ABL kinase domain and BCR-ABL breakpoint region in 73 CML patients.
  
  
  RESULTS
  All eight patients with dual transcripts were found to harbour an exonic polymorphism (c.2700 T>C) and an intronic polymorphism (g.109366A>G) that were earlier reported to be associated with co-expression of both the transcripts. We also observed c.763G>A mutation in ABL kinase domain and two polymorphisms, c.2387 A>G and c.2736A>G in the BCR gene.
  
  
  CONCLUSIONS
  Though our data support the previous findings that co-expression of BCR-ABL transcripts is due to the occurrence of exonic and intronic polymorphisms in the BCR gene, it also shows that the intronic polymorphism can arise without the linked exonic polymorphism. The occurrence of ABL kinase domain mutation is less frequent in Indian population.
authors.affiliation: Institute of Life Sciences, Bhubaneswar, Odisha, India.
authors.forename: S Rajashree
authors.initials: SR
authors.lastname: Nandagopalan
authors.affiliation: Institute of Life Sciences, Bhubaneswar, Odisha, India.
authors.forename: Nivedita
authors.initials: N
authors.lastname: Kuila
authors.affiliation: Sparsh Hospital & Critical Care, Bhubaneswar, Odisha, India.
authors.forename: Sutapa
authors.initials: S
authors.lastname: Biswas
authors.affiliation: Department of Clinical Haematology, SCB Medical College, Cuttack, India.
authors.forename: Naresh Chandra
authors.initials: NC
authors.lastname: Pattnayak
authors.affiliation: Sparsh Hospital & Critical Care, Bhubaneswar, Odisha, India.
authors.forename: Gyanashyam
authors.initials: G
authors.lastname: Biswas
authors.affiliation: Institute of Life Sciences, Bhubaneswar, Odisha, India.
authors.forename: Soumen
authors.initials: S
authors.lastname: Chakraborty
mesh_terms: D000328:Adult; D005091:Exons / Q000235:genetics; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D007194:India; D007438:Introns / Q000235:genetics; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016374:Oncogene Proteins v-abl / Q000235:genetics*; D010677:Philadelphia Chromosome; D011110:Polymorphism, Genetic; D051562:Proto-Oncogene Proteins c-bcr / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D016374:Oncogene Proteins v-abl; D016044:Fusion Proteins, bcr-abl; C496613:BCR protein, human; D051562:Proto-Oncogene Proteins c-bcr