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Genetic and biochemical studies with ataxia telangiectasia: A review by P. C. Huang; R. B. Sheridan is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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This article summarizes the genetics and clinical features of ataxia telangiectasia (AT) and then reviews recent cytogenetic, cellular, and biochemical studies which support the hypothesis that a defect in DNA repair is responsible for the various manifestations of the disease. The biochemical evidence further indicates that the defect specifically reduces the cellular capacity to remove bases and nucleotides damaged by ionizing radiation, without affecting the cells' ability to scavenge free radicals or to rejoin breaks in the sugar-phosphate backbone of DNA. Suggestions for additional research to more precisely identify the repair defect will also be presented.

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Author

P. C. Huang; R. B. Sheridan

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 0340-6717)

Published

1981

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)