Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients

Martin Bucher,David Endesfelder,Ute Roessler,Arndt Borkhardt,Gregor Dückers, Hans-Joachim Kirlum,Petra Lankisch,Prasad T Oommen,Tim Niehues,Claudia E Rübe, Ingrid Baumgartner, Frank Bunk,Simone Moertl,Sabine Hornhardt,Maria Gomolka

Mutation Research/Genetic Toxicology and Environmental Mutagenesis（2021）

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摘要

•Two common used biomarkers were evaluated for radiation sensitivity in AT children.•Both γH2A.X foci assay and mFISH analysis detected radiation-induced DNA damage.•γH2A.X foci assay revealed individual differences in DNA damage repair in AT children.•Basic and radiation-induced chromosomal breakage was detected by mFISH in AT children.•mFISH analysis distinguished effectively all radiosensitive AT patients from controls.

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关键词

Ataxia-telangiectasia,Radiation sensitivity,H2A.X,mFISH,Chromosomal aberrations,Biomarker

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