Variant of ataxia-telangiectasia with low-level radiosensitivity.
In the present study we examined cells from several patients clinically diagnosed as having ataxia-telangiectasia (AT), for the capacity of their cells to inhibit DNA synthesis following exposure to gamma irradiation, and for the rate of spontaneous or bleomycin-induced chromosomal aberrations. Cells from two patients showed normal inhibition of DNA synthesis and levels of induced chromosomal aberrations intermediate between normal and AT cells. These two patients had only minimal immunologic impairment. These findings appear to define one distinct subset of AT.
Fiorilli
M
M
Antonelli
A
A
Russo
G
G
Crescenzi
M
M
Carbonari
M
M
Petrinelli
P
P
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D001761:Bleomycin / Q000494:pharmacology; D002648:Child; D002869:Chromosome Aberrations / Q000187:drug effects / Q000528:radiation effects; D004247:DNA / Q000096:biosynthesis / Q000528:radiation effects*; D005260:Female; D005720:Gamma Rays; D006801:Humans; D066298:In Vitro Techniques; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D011836:Radiation Tolerance
D001761:Bleomycin; D004247:DNA