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) α-chain locus TCRA, three distinct J(α) rearrangements were observed. One rearrangement reflected a normal TCRA variable (V) region V(α)-to-J(α) recombination. The second rearrangement was caused by the translocation event itself, which joined a DNA segment from 14q32 centromeric to the immunoglobulin heavy chain locus (IGH) and a J(α) gene located ≃ 75 kilobases (kb) 5' of the TCRA constant region gene (C(α)). A third rearrangement involved a 17-kb internal deletion 3' to the translocation, a rearrangement within the J(α) 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.
Original language | English (US) |
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Pages (from-to) | 9287-9291 |
Number of pages | 5 |
Journal | Proceedings of the National Academy of Sciences of the United States of America |
Volume | 85 |
Issue number | 23 |
DOIs | |
State | Published - 1988 |
Externally published | Yes |
ASJC Scopus subject areas
- General