X-ray, UV and chemical mutagen sensitivities of skin fibroblasts from patients with familial and chromosome 13q- retinoblastomas.

Abstract
Retinoblastoma (RB), a malignant eye tumor, occurs sporadically and in genetically predisposed children11). The latter consists of the two groups of patients who inherit RB with an autosomal dominant mode1) and bear a specific chromosomal deletion of the long arm of chromosome 13 (13ql4)2). Hereditary RB patients also have a risk for an increased incidence of other cancers and radiation-induced tumors in the fields of radiotherapy3,4). Weichselbaum et al5). first showed that AG1142 [46XX, del(13)(q14-22)] fibroblasts exhibited a high sensitivity to X-ray killing (extrapolation number (n)=1.41, mean lethal dose (Do)=94 rad), which was intermediate between those of radiation-sensitive ataxia telangiectasia (ATCC CRL1343: n=1.39, Do=46 rad) and normal (n=1.44, Do= 149 rad). Arlett and Harcourt6) have also supported Weichselbaum et al5). However, such a high X-ray sensitivity is not necessarily observed in all fibroblast strains from patients with 13q- RB7,8). Nove et al8). extended the tests for the X-ray sensitivity to cells from a considerable number of patients with slightly different 13ql4 deletions and from trisomie patients with break points in 13ql4. In consequence, they have been led to postulate a very interesting hypothesis such that a putative “repair” locus, associated with the X-ray sensitivity, and the “rb” locus will locate in a close proximity in the 13ql4 segment (see Fig. 4 of ref. 7).

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