caa a22 4500 467984395 CHVBK 20180323112527.0 cr unu---uuuuu 170328e19900601xx s 000 0 eng 10.1007/BF00276322 doi (NATIONALLICENCE)springer-10.1007/BF00276322 Louis-Bar syndrome: spontaneous and induced chromosomal aberrations in lymphocytes and micronuclei in lymphocytes, oral mucosa and hair root cells [Elektronische Daten] [Rosella Tomanin, Franco Sarto, Daniela Mazzotti, Luciano Giacomelli, Franca Raimondi, Carlo Trevisan] Summary: Louis-Bar (L-B) syndrome, also called ataxia-telangiectasia, is cytogenetically characterized by an increased frequency of spontaneous and induced chromosomal aberrations (CA) in cultured lymphocytes and skin fibroblasts. However, it is not yet clear whether the chromosomal instability is also present in uncultured cells. The spontaneous and bleomycin-induced CA in peripheral lymphocytes of 8 L-B patients were evaluated. The micronucleus test was also performed, for the first time in lymphocytes by the cytokinesis-block method, and in uncultured cells of the oral cavity and hair root. The spontaneous frequency of CA and micronuclei in lymphocytes was about 3 times higher in L-B patients than in controls, these two cytogenetic parameters being highly correlated. Moreover, the induction by bleomycin of CA was higher in patients than in controls. The micronuclei in buccal and hair root cells of patients were normal. It remains to be determined whether the different responses obtained with cultured and uncultured cells are the result of the different L-B gene expression of chromosomal instability or whether they arise because of a particular cell sensitivity to culture conditions. The spontaneous and induced CA in lymphocytes of heterozygotes cultured in the presence of L-B serum were studied to evaluate a possible increased sensitivity of heterozygotes to a possible diffusible clastogenic factor present in the plasma of L-B patients. We could not demonstrate the presence of any factor that enhances CA in normal subjects or in heterozygote carriers. Springer-Verlag, 1990 Tomanin Rosella Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut Sarto Franco Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut Mazzotti Daniela Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut Giacomelli Luciano Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut Raimondi Franca Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut Trevisan Carlo Clinica Neurologica dell'Università, Via Giustiniani, 5, I-35127, Padova, Italy aut Human Genetics Springer-Verlag 85/1(1990-06-01), 31-38 0340-6717 85:1<31 1990 85 439 https://doi.org/10.1007/BF00276322 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00276322 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Tomanin Rosella Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut NATIONALLICENCE 700 1- Sarto Franco Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut NATIONALLICENCE 700 1- Mazzotti Daniela Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut NATIONALLICENCE 700 1- Giacomelli Luciano Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut NATIONALLICENCE 700 1- Raimondi Franca Istituto di Medicina del Lavoro dell'Università, Via Facciolati, 71, I-35127, Padova, Italy aut NATIONALLICENCE 700 1- Trevisan Carlo Clinica Neurologica dell'Università, Via Giustiniani, 5, I-35127, Padova, Italy aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/1(1990-06-01), 31-38 0340-6717 85:1<31 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer