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Non random distribution of genomic features in breakpoint regions involved in chronic myeloid leukemia cases with variant t(9;22) or additional chromosomal rearrangements
Authors:Francesco Albano  Luisa Anelli  Antonella Zagaria  Nicoletta Coccaro  Paola Casieri  Antonella Russo Rossi  Laura Vicari  Vincenzo Liso  Mariano Rocchi  Giorgina Specchia
Institution:(1) Hematology, University of Bari, 70124 Bari, Italy;(2) Service of Medical Genetics, Cardarelli Hospital, via Cardarelli 9, 80131 Naples, Italy;(3) Department of Genetics and Microbiology, University of Bari, 70126 Bari, Italy
Abstract:

Background  

The t(9;22)(q34;q11), generating the Philadelphia (Ph) chromosome, is found in more than 90% of patients with chronic myeloid leukemia (CML). As a result of the translocation, the 3' portion of the ABL1 oncogene is transposed from 9q34 to the 5' portion of the BCR gene on chromosome 22 to form the BCR/ABL1 fusion gene. At diagnosis, in 5-10% of CML patients the Ph chromosome is derived from variant translocations other than the standard t(9;22).
Keywords:
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