A polymorphism in exon b2 of the major breakpoint cluster region (M-bcr) identified in chronic myeloid leukaemia patients

作者：Meissner RD; Dias PMB; Covas DT; Job F; Leite M; Nardi NB^*

来源：British Journal of Haematology, 1998, 103(1): 224-226.

DOI：10.1046/j.1365-2141.1998.00945.x

• chronic myeloid leukaemia
• BCR/ABL
• BCR exon polymorphism
• RT-PCR
• M-bcr sequencing

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.

• 出版日期1998-10