Characterization of a hairy cell leukemia-associated 5q13.3 Inversion breakpoint

Xiushan Wu, Mats Merup, Gunnar Juliusson, Monika Jansson, Birgitta Stellan, Dan Grandér, Eugene Zabarovsky, Yie Liu, T. Spasokoukotskaja, Gösta Gahrton, Stefan Einhorn

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Abstract

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 5q 13.3 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 5q 13.3. 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.

Original languageEnglish
Pages (from-to)337-346
Number of pages10
JournalGenes Chromosomes and Cancer
Volume20
Issue number4
DOIs
Publication statusPublished - Dec 1997

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Hairy Cell Leukemia
Fluorescence In Situ Hybridization
Interphase
Genes
Cosmids
Chromosomes, Human, Pair 5
Cytogenetic Analysis
Pulsed Field Gel Electrophoresis
Chromosome Aberrations
Libraries
Color
Chromosomes

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Characterization of a hairy cell leukemia-associated 5q13.3 Inversion breakpoint. / Wu, Xiushan; Merup, Mats; Juliusson, Gunnar; Jansson, Monika; Stellan, Birgitta; Grandér, Dan; Zabarovsky, Eugene; Liu, Yie; Spasokoukotskaja, T.; Gahrton, Gösta; Einhorn, Stefan.

In: Genes Chromosomes and Cancer, Vol. 20, No. 4, 12.1997, p. 337-346.

Research output: Contribution to journalArticle

Wu, X, Merup, M, Juliusson, G, Jansson, M, Stellan, B, Grandér, D, Zabarovsky, E, Liu, Y, Spasokoukotskaja, T, Gahrton, G & Einhorn, S 1997, 'Characterization of a hairy cell leukemia-associated 5q13.3 Inversion breakpoint', Genes Chromosomes and Cancer, vol. 20, no. 4, pp. 337-346. https://doi.org/10.1002/(SICI)1098-2264(199712)20:4<337::AID-GCC4>3.0.CO;2-2
Wu, Xiushan ; Merup, Mats ; Juliusson, Gunnar ; Jansson, Monika ; Stellan, Birgitta ; Grandér, Dan ; Zabarovsky, Eugene ; Liu, Yie ; Spasokoukotskaja, T. ; Gahrton, Gösta ; Einhorn, Stefan. / Characterization of a hairy cell leukemia-associated 5q13.3 Inversion breakpoint. In: Genes Chromosomes and Cancer. 1997 ; Vol. 20, No. 4. pp. 337-346.
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