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Hum Genet. 1981;59(1):1-9.

Genetic and biochemical studies with ataxia telangiectasia. A review.

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  • 1Department of Biochemistry, School of Hygiene and Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.

Abstract

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.

PMID:
10819014
[PubMed - indexed for MEDLINE]
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