Gene order, amplification, and rearrangement of chromosome band 11q23 in hematologic malignancies

Eleven genes were found to be amplified in a patient with acute myelogenous leukemia and a homogeneous staining region 11q23qter. The gene order of such region was determined by using transverse alternating field electrophoresis of normal cell DNA and Southern blots of DNA from somatic cell hybrids, each containing a single human derivative chromosome 11 from six different chromosomal defects. This in turn allowed us to uncover a breakpoint in band 11q23.3 between the CD3 gamma and the ets-1 genes in genomic rearrangements found in acute myelogenous leukemia, acute lymphocytic leukemia, and B-cell diffuse lymphoma. The breakpoint of a constitutional deletion from a patient whose mother and brother have a heritable 11q23.3 fragile site occurs in the same region.