Study of DNA repair on a xeroderma pigmentosum patient and his heterozygotic parents

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Abstract
Unscheduled DNA synthesis, photoreplication repair capacity, and photoreactivating enzyme levels were examined in cells of individuals of a family with one case of XP and otherwise clinically normal parents. The patient's parents were first cousins. The activity of three paths of DNA repair was depressed in the XP cells. The clinically normal parents showed normal levels of unscheduled DNA synthesis as well as postreplication repair, however their photoreactivating enzyme level was as low as 30% of normal levels. In einer Familie, bei der ein Sohn charakteristische Xeroderma pigmentosum-Symptome aufwies, wurde folgende Untersuchung durchgeführt: “Unscheduled” DNA-Synthese, Photoreplikations-Repair-Kapazität und photoreaktivierende Enzyme. Die Eltern waren Geschwisterkinder. In den Zellen dieses XP-Patienten hatte sich die DNA-Repair-Kapazität vermindert. Bei den Eltern, die klinisch symptomfrei waren, wurden Normalwerte der “unscheduled” DNA-Synthese und der Postreplikations-Repair ermittelt, obwohl die photoreaktivierende Enzymaktivität nur 30% des Normalwertes betrug.