Abstract |
Multiple genes of hematopoietic importance have been localized to the long arm of chromosome 5 including granulocytemacrophage colony stimulating factor ( GM-CSF) and interleukins (IL) 3, 4 and 5 to 5q23-31, colony stimulating factor 1 (CSF1) to 5q33.1 and its receptor (c-fms) to 5q33.3. The genes coding for platelet-derived growth factor receptor (PDGFR) and acidic fibroblast growth factor (FGFA) have been localized to 5q31-32 and 5q31.3-33.2, respectively. These genes fall in the region of chromosome 5 which is deleted in the 5q- refractory anemia syndrome (5q-RA) and acute nonlymphocytic leukemia ( ANLL). We have characterized this region in a 5q- patient with therapy-related ANLL (t- ANLL) by pulsed-field gel electrophoresis and Southern blotting analysis utilizing DNA probes for PDGFR, c-fms, and FGFA. A single 300 kbp M1uI restriction fragment was detected in the patient using a PDGFR probe as compared to a 200 kbp fragment in normal controls. BssHII digestions also showed restriction fragment length difference. Similar data for both M1uI and BssHII digestions were also obtained when c-fms was used as a probe. Southern blotting analysis of EcoRI-digested DNA showed that each of the PDGFR, c-fms, and FGFA alleles were deleted. These results suggested that one chromosome 5 has a large deletion involving PDGFR, c-fms and FGFA, which is consistent with the cytogenetic analysis of the patient. In contrast, the other chromosome 5, which appeared normal cytogenetically, may have a smaller deletion (or alteration) in proximity to but not involving any of these 3 genes.
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Authors | D E Thornton, K Theil, R Payson, S P Balcerzak, I M Chiu |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 41
Issue 4
Pg. 557-65
(Dec 15 1991)
ISSN: 0148-7299 [Print] United States |
PMID | 1723247
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- DNA, Neoplasm
- Receptors, Cell Surface
- Fibroblast Growth Factor 1
- Receptor, Macrophage Colony-Stimulating Factor
- Receptors, Platelet-Derived Growth Factor
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Topics |
- Adult
- Anemia, Refractory
(genetics)
- Chromosome Deletion
- Chromosomes, Human, Pair 5
- DNA, Neoplasm
(genetics)
- Fibroblast Growth Factor 1
(genetics)
- Humans
- Leukemia, Myeloid, Acute
(etiology, genetics)
- Male
- Receptor, Macrophage Colony-Stimulating Factor
(genetics)
- Receptors, Cell Surface
(genetics)
- Receptors, Platelet-Derived Growth Factor
- Restriction Mapping
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