Molecular cloning of a 5' segment of the genomic phl gene defines a new breakpoint cluster region (bcr2) in Philadelphia-positive acute leukemias.

Abstract

Molecular rearrangements of Ph1 chromosome, the hallmark of CML, are clustered in a 5.8-kb DNA segment, the so-called breakpoint cluster region (bcr) of the phl gene that is localized to chromosome 22q11. In Ph1-positive (Ph1+) ALLs, the rearrangements have been shown to involve either the 5.8-kb bcr (called bcr+) or a region upstream of bcr in the 5' end of the phl gene (bcr-). To gain insight into the rearrangements occurring in Ph1+ acute leukemias, a 64-kb DNA fragment from the 5' end of phl was analyzed in order to generate molecular probes covering 40 kb of the phl gene first intron. A panel of seven cases of bcr-Ph1+ acute leukemia (three nonlymphocytic and four lymphocytic) was investigated with these intron 1-derived probes. Strikingly, in six of the seven leukemias, the breakpoints were located in a 10.8-kb DNA segment, defining a new bcr which appears to be specific for Ph1+ acute leukemias. By analogy with the CML bcr region located in the 3' part of the phl gene, we propose to designate this 10.8-kb fragment bcr2.

• Authors: S J Chen, Z Chen, J D Grausz, J Hillion, L d'Auriol, G Flandrin, C J Larsen, R Berger
• Journal: Leukemia (Leukemia) Vol. 2 Issue 10 Pg. 634-41 (Oct 1988) ISSN: 0887-6924 [Print] England
• PMID: 3172840 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 22
• Cloning, Molecular
• Humans
• Leukemia, Myeloid, Acute (genetics)
• Oncogenes
• Philadelphia Chromosome
• Precursor Cell Lymphoblastic Leukemia-Lymphoma (genetics)
• Recombination, Genetic
• Restriction Mapping