PMID- 9408749 OWN - NLM STAT- MEDLINE DCOM- 19980113 LR - 20191024 IS - 1045-2257 (Print) IS - 1045-2257 (Linking) VI - 20 IP - 4 DP - 1997 Dec TI - Characterization of a hairy cell leukemia-associated 5q13.3 inversion breakpoint. PG - 337-46 AB - Previous cytogenetic analysis has indicated that chromosome anomalies involving the 5q13 band are common in hairy cell leukemia (HCL), occurring in approximately 1/3 of the patients. The data suggest that 5q13.3 is likely to harbor a gene involved in the transformational event of this disease. We selected a constitutional inv(5)(p13.1q13.3) in a patient with HCL as the starting point in an attempt to identify the relevant gene in 5q13.3. By using double color interphase fluorescence in situ hybridization (FISH) techniques, we have identified two cosmid probes from a chromosome 5-specific library that flank the 5q13.3 inversion breakpoint proximally and distally. Pulsed field gel electrophoresis (PFGE) and interphase FISH experiments suggest that the two markers are at a distance of no more than 300 kb. YAC probes covering a 21 Mb region at 5q13 were used to map the 5q13.3 inversion breakpoint and the breakpoint is located within the D5S646-D5S620 region. Two non-chimeric YACs have been identified that span the breakpoint. FISH analysis revealed that four other patients with cytogenetic aberrations of 5q carried inversions/deletions that involved the same 5q13.3 breakpoint region. The identification of a gene involved in hairy cell leukemogenesis in this region will be of major importance in the elucidation of the transformational events of HCL. FAU - Wu, X AU - Wu X AD - Radiumhemmet, Karolinska Hospital, Stockholm, Sweden. FAU - Merup, M AU - Merup M FAU - Juliusson, G AU - Juliusson G FAU - Jansson, M AU - Jansson M FAU - Stellan, B AU - Stellan B FAU - Grander, D AU - Grander D FAU - Zabarovsky, E AU - Zabarovsky E FAU - Liu, Y AU - Liu Y FAU - Spasokoukotskaja, T AU - Spasokoukotskaja T FAU - Gahrton, G AU - Gahrton G FAU - Einhorn, S AU - Einhorn S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Genes Chromosomes Cancer JT - Genes, chromosomes & cancer JID - 9007329 RN - 0 (DNA Probes) SB - IM MH - Chromosome Deletion MH - *Chromosome Inversion MH - Chromosome Mapping MH - Chromosomes, Artificial, Yeast MH - Chromosomes, Human, Pair 5/*genetics MH - Cosmids MH - DNA Probes MH - Electrophoresis, Gel, Pulsed-Field MH - Genes, Neoplasm MH - Humans MH - In Situ Hybridization, Fluorescence MH - Interphase MH - Karyotyping MH - Leukemia, Hairy Cell/*genetics MH - Male MH - Microsatellite Repeats MH - Middle Aged MH - Tumor Cells, Cultured EDAT- 1997/12/31 23:47 MHDA- 2000/06/20 09:00 CRDT- 1997/12/31 23:47 PHST- 1997/12/31 23:47 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1997/12/31 23:47 [entrez] AID - 10.1002/(SICI)1098-2264(199712)20:4<337::AID-GCC4>3.0.CO;2-2 [pii] AID - 10.1002/(sici)1098-2264(199712)20:4<337::aid-gcc4>3.0.co;2-2 [doi] PST - ppublish SO - Genes Chromosomes Cancer. 1997 Dec;20(4):337-46. doi: 10.1002/(sici)1098-2264(199712)20:4<337::aid-gcc4>3.0.co;2-2.