Molecular cloning and characterization of 3q21 breakpoints from leukemia-associated t(3;3)(q21;q26)
- Eleanor Roosevelt Institute, Denver, CO (United States)
- Karolinska Institute, Stockholm (Sweden); and others
A variety of rearrangements of 3q21, including deletion, translocation with 3q26 and other chromosomes, and inversion of 3q21-3q26, have been associated with hematological malignancy. To begin characterization of the 3q21 breakpoint region, the der3q- and der3q+ chromosomes from 2 separate leukemia patients carrying t(3;3)(q21;q26) have been isolated in hybrid cell lines, and the der3q- chromosomes analyzed extensively. In both cases, the 3q26 breakpoints occur between the EAP and EVI1 genes without direct rearrangement of either gene. In 3q21, 2 NotI linking clones have been identified that are physically linked on a 50 kb NotI fragment that spans both 3q21 breakpoints. To characterize this region further, an 80 kb P1 clone containing both NotI clones has been isolated from the Dupont total human P1 library. The breakpoints have been localized within this clone to SacI fragments of 1 kb and 0.8 kb that are separated by 9 kb. This is preliminary evidence suggesting that the 3q21 leukemia breakpoints may be generally more clustered than those within 3q26. Rare restriction site mapping of the P1 clone shows a high density of sites and suggests a GC-rich and therefore potentially gene-rich region. Sequence analysis of the breakpoint fragments has so far yielded no homologies with known genes; however, preliminary analysis around the NotI site 35 kb centromeric to the breakpoints shows homology with several transcription factor genes. Isolation of all genes within the P1 clone is in progress.
- OSTI ID:
- 133335
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0062
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
Similar Records
Yeast artificial chromosome cloning of 3.2 megabases within chromosomal band 11q24 closely linking c-ets 1 and Fli-1 and encompassing the Ewing sarcoma breakpoint
Recombination hot spot in 3.2-kb region of the Charcot-Marie Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A