摘要 |
<p>Ataxia telangiectasia (AT) homozygotes and heterozygotes may be detected by analysing cell extracts or body fluids for dRp-X (a modified deoxyribose phosphate compound, identified as glucosamine-6-phosphate), dRp-X-forming activity, or inhibitory compound Y which is present in normal cells and inhibits dRp-X formation. AT homo- and heterozygotes are abnormally sensitive to mutagens such as bleomycin, tobacco smoke and ionizing radiation. The assay may therefore be used prior to medical administration of certain drugs or X-rays and as part of lifestyle counselling.</p> |