title: Juxtaposition of the T-cell receptor alpha-chain locus (14q11) and a region (14q32) of potential importance in leukemogenesis by a 14;14 translocation in a patient with T-cell chronic lymphocytic leukemia and ataxia-telangiectasia.
abstract: We describe a t(14;14)(q11;q32) translocation in a patient with T-cell chronic lymphocytic leukemia and ataxia-telangiectasia (AT). By using a battery of joining (J)-segment probes from the T-cell receptor (TCR) alpha-chain locus TCRA, three distinct J alpha rearrangements were observed. One rearrangement reflected a normal TCRA variable (V) region V alpha-to-J alpha recombination. The second rearrangement was caused by the translocation even itself, which joined a DNA segment from 14q32 centromeric to the immunoglobulin heavy chain locus (IGH) and a J alpha gene located approximately 75 kilobases (kb) 5' of the TCRA constant region gene (C alpha). A third rearrangement involved a 17-kb internal deletion 3' to the translocation, a rearrangement within the J alpha locus that has been observed once before in a patient with AT. Analysis of these three rearrangements underscores the increase in aberrant locus-specific recombination in lymphocytes from patients with AT. Furthermore, these studies support the view that a growth-effecting gene is present in the 14q32 region that participates in the leukemogenic process.
authors.affiliation: Metabolism Branch, National Institutes of Health, Bethesda, MD 20892.
authors.forename: M P
authors.initials: MP
authors.lastname: Davey
authors.forename: V
authors.initials: V
authors.lastname: Bertness
authors.forename: K
authors.initials: K
authors.lastname: Nakahara
authors.forename: J P
authors.initials: JP
authors.lastname: Johnson
authors.forename: O W
authors.initials: OW
authors.lastname: McBride
authors.forename: T A
authors.initials: TA
authors.lastname: Waldmann
authors.forename: I R
authors.initials: IR
authors.lastname: Kirsch
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications / Q000235:genetics* / Q000276:immunology; D001483:Base Sequence; D015139:Blotting, Southern; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D005796:Genes; D006098:Granulocytes / Q000276:immunology; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000150:complications / Q000235:genetics* / Q000276:immunology; D015458:Leukemia, T-Cell / Q000150:complications / Q000235:genetics* / Q000276:immunology; D008214:Lymphocytes / Q000276:immunology; D008969:Molecular Sequence Data; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D011948:Receptors, Antigen, T-Cell