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No evidence for genomic imprinting of the human BCR gene

  • Thoas Fioretos
  • Nora Heisterkamp
  • John Groffen
Publishing year: 1994
Language: English
Pages: 3441-3444
Publication/Series: Blood
Volume: 83
Issue: 12
Document type: Journal article
Publisher: American Society of Hematology

Abstract english

Chronic myeloid leukemias and 5% to 20% of acute lymphoid leukemias are characterized by the Philadelphia chromosome, a reciprocal chromosomal translocation, t(9;22)(q34;q11), generating BCR-ABL and ABL-BCR fusion genes. Cytogenetic studies have recently shown a preferential involvement of the paternally derived chromosome 9 and the maternally derived chromosome 22 in this translocation, indicating that imprinting might be involved in the formation or selection of the translocation. In this study, we have identified a BamHI polymorphism in the coding region of BCR exon 1, allowing us to investigate whether both BCR alleles are transcribed. By using a reverse transcriptase-polymerase chain reaction assay, we show that both BCR alleles are expressed in the peripheral blood cells of normal individuals.


  • Hematology


  • ISSN: 1528-0020
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67