Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.
We used a modified colony survival assay to measure the sensitivity to ionizing radiation of more than 50 lymphoblastoid cell lines from normal individuals and from patients with ataxia-telangiectasia, Nijmegen breakage syndrome variants, and X-linked agammaglobulinemia. All of these disorders are associated with an increased frequency of cancer. Lymphoblastoid cell lines from patients with ataxia-telangiectasia complementation groups A, C, D, and E; ATFresno; Nijmegen breakage syndrome variants V1 and V2; and X-linked agammaglobulinemia showed marked radiosensitivity, whereas ataxia-telangiectasia heterozygotes were similar to controls. Friedreich's ataxia is not associated with increased cancer risk; lymphoblastoid cell lines from two such patients showed normal radiosensitivity. Taken together, these results suggest that some forms of X-ray sensitivity and cancer susceptibility share a common mechanism, such as an enzyme that is necessary both for the repair of radiation damage to DNA and for gene rearrangements during V(D)J recombination.
Huo
Y K
YK
Department of Pathology, UCLA School of Medicine 90024-1732.
Wang
Z
Z
Hong
J H
JH
Chessa
L
L
McBride
W H
WH
Perlman
S L
SL
Gatti
R A
RA
D000361:Agammaglobulinemia / Q000235:genetics / Q000532:radiotherapy*; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000532:radiotherapy*; D002460:Cell Line; D003114:Colony-Forming Units Assay; D008040:Genetic Linkage; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects; D014960:X Chromosome