title: Molecular characterization of the breakpoint region associated with a constitutional t(2;15)(q34;q26) in a patient with multiple myeloma.
abstract: The molecular cloning of the translocation breakpoints from constitutional chromosome rearrangements in patients with a variety of human diseases has consistently led to the isolation of genes important in the development of the phenotype. We used fluorescence in situ hybridization (FISH) to analyze the breakpoint region of a constitutional chromosome translocation involving regions 2q34 and 15q26 observed in a patient with multiple myeloma (MM), a malignant disorder of plasma cells secreting monoclonal immunoglobulin. FISH analysis of this rearrangement showed that the chromosome 2-specific yeast artificial chromosome (YAC) 914E7 and the chromosome 15-specific YAC 757H6 span the translocation breakpoints, respectively. In order to characterize the location of the breakpoints further, somatic cell hybrids were constructed between mouse NIH3T3 cells and t(2;15)-bearing lymphoblastoid cells. Using these somatic cell hybrids, we have shown that the breakpoint on chromosome 2 lies between D2S3007 and D2S3004 and the chromosome 15 breakpoint lies between D15S107 and WI5967 (D15S836). YAC fragmentation has been used to define a 350 kb region containing the 15q26 breakpoint.
authors.affiliation: Center for Molecular Genetics/NB20, Lerner Research Institute, The Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
authors.forename: E
authors.initials: E
authors.lastname: Kitamura
authors.forename: B A
authors.initials: BA
authors.lastname: Kuemerle
authors.forename: O B
authors.initials: OB
authors.lastname: Chernova
authors.forename: J K
authors.initials: JK
authors.lastname: Cowell
mesh_terms: D016475:3T3 Cells; D000328:Adult; D000818:Animals; D018244:Chromosomes, Artificial, Yeast; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D018450:Disease Progression; D017809:Fatal Outcome; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D006822:Hybrid Cells; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D051379:Mice; D009101:Multiple Myeloma / Q000235:genetics* / Q000628:therapy; D020161:Physical Chromosome Mapping; D014178:Translocation, Genetic / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D005819:Genetic Markers