title: A polymorphism in exon b2 of the major breakpoint cluster region (M-bcr) identified in chronic myeloid leukaemia patients.
abstract: The BCR/ABL junctional region and the b3 exon from chronic myeloid leukaemia (CML) patients were sequenced. In all 21 samples analysed the junctional region, as well as the b3 exon of 8 b3a2 mRNA molecules, presented no differences to the already described sequences. However, we identified a polymorphic base in the b2 exon in two out of seven b3a2 samples, four out of 10 b2a2 samples and all four b3a2/b2a2 samples analysed. In the eighth position before the junctional region of BCR/ABL cDNA, a cytosine replaces thymine in these cases. The polymorphism described here could be a useful marker for the differentiation of normal and rearranged BCR alleles in heterozygotes.
authors.affiliation: Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: R V
authors.initials: RV
authors.lastname: Meissner
authors.forename: P M
authors.initials: PM
authors.lastname: Dias
authors.forename: D T
authors.initials: DT
authors.lastname: Covas
authors.forename: F
authors.initials: F
authors.lastname: Job
authors.forename: M
authors.initials: M
authors.lastname: Leite
authors.forename: N B
authors.initials: NB
authors.lastname: Nardi
mesh_terms: D005091:Exons / Q000235:genetics*; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017423:Sequence Analysis, RNA
chemical_list: D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl