title: Comparative study of radiation-induced G2 phase delay and chromatid damage in families with ataxia-telangiectasia.
abstract: Two assay systems, radiation-induced chromosome aberrations and flow cytometry, were compared for the detection of ataxia-telangiectasia (A-T) heterozygotes. In three A-T families, the frequencies of chromatid aberrations in phytohemagglutinin-stimulated blood lymphocytes after 1 Gy of gamma-irradiation were twofold higher in A-T homozygotes than in obligate A-T heterozygotes, which were in turn approximately twofold higher than in normal control cells. Other consanguineous relatives of A-T patients had intermediate levels of induced chromatid aberrations, suggesting that they were carriers of the gene. Matched Epstein-Barr virus-transformed lymphoblastoid cell lines from A-T homozygotes showed a greater radiation-induced accumulation in the G2 phase of the cell cycle than did control cells. In family B, both obligate heterozygotes had increased G2 delay, as did the one heterozygote available for family C, and two of the grandparents in that family were in the high range for G2 delay. Neither parent in family A had high G2 phase delay after irradiation although the induced chromatid aberrations were in the heterozygote valve range. These results show a good concordance between the two assay systems for A-T heterozygotes, with the chromatid aberrations somewhat more consistent.
authors.affiliation: Queensland Cancer Fund Research Unit, Queensland Institute of Medical Research, Brisbane, Australia.
authors.forename: P
authors.initials: P
authors.lastname: Chen
authors.forename: A
authors.initials: A
authors.lastname: Farrell
authors.forename: K
authors.initials: K
authors.lastname: Hobson
authors.forename: A
authors.initials: A
authors.lastname: Girjes
authors.forename: M
authors.initials: M
authors.lastname: Lavin
mesh_terms: D000328:Adult; D000368:Aged; D001260:Ataxia Telangiectasia / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002842:Chromatids / Q000528:radiation effects*; D002869:Chromosome Aberrations / Q000235:genetics; D005260:Female; D016195:G2 Phase / Q000528:radiation effects*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013997:Time Factors