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DNA rearrangements proximal to the EVI1 locus associated with the 3q21q26
syndrome
ER Levy, E Parganas, K Morishita, S Fichelson, L James, D Oscier, S Gisselbrecht, JN Ihle and VJ Buckle
Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.
Specific rearrangements involving 3q21 and 3q26 are well documented in
acute myeloid leukemia (AML). Aberrant expression of the Ecotropic virus
integration-1 (EVI1) gene, located at 3q26, has been reported in
individuals with AML and translocations or inversions of chromosome 3 long
arm. We have studied six individuals with AML and inv(3)(q21q26) for
disruptions to the EVI1 locus by in situ hybridization and long- range
mapping. EVI1 transcripts have been detected in the blast cells of the two
individuals available for expression studies. We derived a YAC containing
the EVI1 gene and showed that it crossed the 3q26 inversion breakpoints in
three of four cases examined. Pulsed field analysis detected aberrant
fragments 3' of the EVI1 gene in all six patients. The orientation of the
gene was established and the locations of the breakpoints were refined by
in situ hybridization using phage clones from this region.
Volume 83,
Issue 5,
pp. 1348-1354,
03/01/1994
Copyright © 1994 by The American Society of Hematology

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