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Mutagenesis, Vol. 15, No. 4, 303-310, July 2000
© 2000 UK Environmental Mutagen Society/Oxford University Press

Spontaneous and X-ray-induced chromosomal aberrations in Werner syndrome cells detected by FISH using chromosome-specific painting probes

M. Grigorova3, A.S. Balajee1 and A.T. Natarajan2

Department of Radiation Genetics and Chemical Mutagenesis, Leiden University Medical Centre, Wassenaarseweg 72, 2333 AL, Leiden, The Netherlands and 1 Laboratory of Molecular Genetics, National Institute on Aging, National Institute of Health, Nathan Shock Drive, Baltimore, MD 212224, USA

Werner syndrome (WS) is a rare autosomal disorder characterized by premature aging exhibiting chromosome instability and predisposition to cancer. Cells derived from WS patients show a variety of constitutionally stable chromosomal aberrations as detected by conventional chromosome banding techniques. We have employed the fluorescence in situ hybridization (FISH) technique using painting probes for 12 different chromosomes to detect stable chromosome exchanges in three WS cell lines and three control cell lines. WS cell lines showed increased frequencies of both stable and unstable chromosome aberrations detected by FISH and Giemsa staining, respectively. One WS lymphoblastoid cell line (KO375) had a 5/12 translocation in all the cells and ~60% of the cells had an additional translocated chromosome 12. A high frequency of aneuploid cells was found in all the WS cell lines studied. Though WS cells are known to be chromosomally unstable, unlike other chromosome instability syndromes they are not sensitive to mutagenic agents. We studied the frequencies of X-ray-induced chromosomal aberrations in two WS cell lines and found an ~60% increase in the frequencies of fragments and no consistent increase in the frequencies of exchanges.

2 To whom correspondence should be addressed. Tel: +31 71 5276154; Fax: + 31 71 5221615; Email: natarajan{at}rullf2.medfac.leidenuniv.nl

3 Present address: National Centre for Radiation Biology and Radiation Protection, Sofia 1756, Bulgaria


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