Molecular analysis of an ataxia telangiectasia T-cell clone with a chromosomal translocation t(14;18)--evidence for a breakpoint in the T-cell receptor delta-chain gene.
We established a clonal T-cell line with a reciprocal chromosomal translocation t(14;18)(q11;q23) from a patient with ataxia telangiectasia (AT) and T-cell chronic lymphocytic leukemia (T-CLL). The tumor cells and the derived T-cell line were compared with respect to phenotype, karyotype, and rearrangement pattern. Restriction fragment analyses of the T-cell receptor (TCR)-delta gene, which is located within the TCR-alpha gene on chromosome 14q11, indicated that the breakpoint is located within the TCR-delta locus, splitting the TCR-delta gene between the variable and joining segments. This specific chromosomal translocation was only detected in the derived T-cell line and may be involved in the genesis of T-cell malignancies in AT.
Uppenkamp
M
M
Department of Internal Medicine, University of Essen, F.R.G.
Dresen
I G
IG
Becher
R
R
Raffeld
M
M
Meusers
P
P
D001260:Ataxia Telangiectasia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002873:Chromosome Fragility; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D002887:Chromosomes, Human, Pair 18; D004273:DNA, Neoplasm / Q000032:analysis; D016694:Gene Rearrangement, delta-Chain T-Cell Antigen Receptor; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D015461:Leukemia, Prolymphocytic, T-Cell / Q000150:complications / Q000235:genetics / Q000473:pathology; D014411:Neoplastic Stem Cells / Q000737:chemistry / Q000473:pathology; D012150:Polymorphism, Restriction Fragment Length; D013601:T-Lymphocytes / Q000737:chemistry* / Q000473:pathology; D014178:Translocation, Genetic
D004273:DNA, Neoplasm