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Titolo:
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
Autore:
Stumm, M; Neubauer, S; Keindorff, S; Wegner, RD; Wieacker, P; Sauer, R;
Indirizzi:
Univ Magdeburg, Inst Human Genet, D-39106 Magdeburg, Germany Univ Magdeburg Magdeburg Germany D-39106 net, D-39106 Magdeburg, Germany Univ Erlangen Nurnberg, Clin Radiat Therapy, Erlangen, Germany Univ Erlangen Nurnberg Erlangen Germany diat Therapy, Erlangen, Germany Free Univ Berlin, Inst Human Genet, D-1000 Berlin, Germany Free Univ Berlin Berlin Germany D-1000 man Genet, D-1000 Berlin, Germany
Titolo Testata:
CYTOGENETICS AND CELL GENETICS
fascicolo: 3-4, volume: 92, anno: 2001,
pagine: 186 - 191
SICI:
0301-0171(2001)92:3-4<186:HFOSTR>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERMEDIATE CELLULAR RADIOSENSITIVITY; CHROMOSOMAL INSTABILITY DISORDER; BLOOD-LYMPHOCYTES; HETEROZYGOTES; IMMUNODEFICIENCY; HETEROGENEITY; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Stumm, M Klinikum Univ Magdeburg, Inst Human Genet, Leipziger Str 44, D-39120 Magdeburg, Germany Klinikum Univ Magdeburg Leipziger Str 44 Magdeburg Germany D-39120
Citazione:
M. Stumm et al., "High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome", CYTOG C GEN, 92(3-4), 2001, pp. 186-191

Abstract

The application of fluorescence in situ hybridization (FISH) using whole-chromosome paints (WCPs) is proving to be a very powerful technique for revealing chromosomal instability that, for the most part, has gone undetected by conventional cytogenetic analysis. We have analyzed the frequency of translocations in lymphocytes and lymphoblastoid cell lines from ataxia telangiectasia (AT) and Nijmegen breakage syndrome (NBS) homozygotes and heterozygotes using a three-color chromosome-painting technique (WCP 1, 2, 4). Withthis assay we were able to detect an increased frequency of spontaneous translocations in AT homozygotes (median, 18.47 +/- 10.82 translocations per 1,000 metaphase cells: 10 patients) and AT heterozygotes (median, 7.87 +/- 3.15 translocations per 1.000 cells, 7 patients), in comparison to controls(median. 2.26 +/- 1.75 translocations per 1,000 cells; 10 controls). Analysis of NBS homozygotes(median. 19.05 +/- 11.27 translocations per 1.000 cells, 5 patients) and NBS heterozygotes (median, 6.93 +/- 3.04 translocationsper 1,000 cells; 6 patients) also showed an increased frequency of translocations in these patients compared to controls. The presence of such hitherto undetected chromosomal aberrations corroborate previous findings of spontaneous chromosomal instability in AT and NBS patients, as manifested by anincreased rate of open breaks and rearrangements involving chromosomes 7 and 14. Moreover, we show that the degree of genomic instability in AT and NBS patients is even higher than previously established and that some AT andNBS heterozygotes evidence spontaneous chromosomal instability as well. These increased levels of nonspecific translocations could be an important risk factor for the development of malignancies in homozygotes and heterozygotes for ATM or NBS 1 gene mutations. Copyright (C) 2001 S. Karger AG, Basel.

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Documento generato il 31/10/20 alle ore 13:55:24