title: Interstitial insertion of varying amounts of ABL-containing genetic material into chromosome 22 in Ph-negative CML.
abstract: We studied the cells from three selected patients with Ph-chromosome-negative chronic myeloid leukemia (CML) by Southern blotting, polymerase chain reaction, and in situ hybridization of informative probes to metaphase chromosomes. All three patients had rearrangement of M-BCR sequences in the BCR gene and expression of one or other of the mRNA species characteristic of Ph-positive CML. Leukemic metaphases studied after trypsin-Giemsa banding were indistinguishable from normal. The ABL probe localized both to chromosome 9 and 22 in each case. A probe containing 3' M-BCR sequences localized only to chromosome 22, and not to chromosome 9 as would be expected in Ph-positive CML. Two new probes that recognize different polymorphic regions distal to the ABL gene on chromosome 9 in normal subjects localized exclusively to chromosome 9 in two patients and to both chromosomes 9 and 22 in one patient. These results show that Ph-negative CML with BCR rearrangement is associated with insertion of a variable quantity of chromosome 9 derived material into chromosome 22q11; there is no evidence for reciprocal translocation of material from chromosome 22 to chromosome 9.
authors.affiliation: MRC/LRF Leukaemia Unit, Hammersmith Hospital, London, U.K.
authors.forename: F
authors.initials: F
authors.lastname: Rassool
authors.forename: P
authors.initials: P
authors.lastname: Martiat
authors.forename: A
authors.initials: A
authors.lastname: Taj
authors.forename: I
authors.initials: I
authors.lastname: Klisak
authors.forename: J
authors.initials: J
authors.lastname: Goldman
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D001854:Bone Marrow Cells; D002871:Chromosome Banding; D002892:Chromosomes, Human, Pair 22 / Q000502:physiology*; D004247:DNA / Q000235:genetics; D004251:DNA Transposable Elements / Q000502:physiology*; D015321:Gene Rearrangement / Q000502:physiology; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008677:Metaphase; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D016315:Proto-Oncogene Proteins c-abl; D014178:Translocation, Genetic / Q000502:physiology
chemical_list: D004251:DNA Transposable Elements; D011518:Proto-Oncogene Proteins; D004247:DNA; D016315:Proto-Oncogene Proteins c-abl