Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 May;143(Supplement):S136-S141.
doi: 10.4103/0971-5916.191816.

Dual transcripts of BCR- ABL & different polymorphisms in chronic myeloid leukaemia patients

S Rajashree Nandagopalan  1 , Nivedita Kuila  1 , Sutapa Biswas  2 , Naresh Chandra Pattnayak  3 , Gyanashyam Biswas  2 , Soumen Chakraborty  1
Affiliations

Dual transcripts of BCR- ABL & different polymorphisms in chronic myeloid leukaemia patients

S Rajashree Nandagopalan et al. Indian J Med Res. 2016 May.

Abstract

Background & objectives: 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.

Interpretation & 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.

PubMed Disclaimer

Conflict of interest statement

None.

Figures

Fig. 1
Fig. 1
Agarose gel electrophoresis of dual transcript samples. Lane 1- 100 bp ladder, lane 2- ABL control (288 bp), lane 3- breakpoint region (BCR-ABL) (e13a2-308 bp and e14a2-383 bp), lanes 4 and 5- e13a2 (123 bp and 198 bp) and e14a2 (129 bp) transcript specific PCR, respectively.
Fig. 2
Fig. 2
Electropherogram of wild type and mutant alleles of patients 1- 8. The mutation sites are indicated by arrows (Fig. 2A-2E) and schematic representation of the various polymorphisms, mutations are represented by asterisks (*) and the positions of the primers are indicated by arrows in Fig. 2F.
See this image and copyright information in PMC

References

    1. Melo JV. The diversity of BCR–ABL fusion proteins and their relationship to leukaemia phenotype. Blood. 1996;88:2375–84. - PubMed
    1. Pane F, Frigeri F, Sindona M, Luciano L, Ferrara F, Cimino R, et al. Neutrophilic-chronic myeloid leukaemia: a distinct disease with a specific molecular marker (BCR/ABL with C3/A2 junction) Blood. 1996;88:2410–4. - PubMed
    1. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukaemia: rationale and important changes. Blood. 2009;114:937–51. - PubMed
    1. Advani AS, Pendergast AM. Bcr-Abl variants: Biological and clinical aspects. Leuk Res. 2002;26:713–20. - PubMed
    1. Branford S, Hughes TP, Rudzki Z. 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. Br J Haematol. 2002;117:875–7. - PubMed