Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair
- 1 September 1979
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 16 (3), 137-146
- https://doi.org/10.1111/j.1399-0004.1979.tb00982.x
Abstract
The analysis of DNA repair processes is described in 2 pregnancies at risk for xeroderma pigmentosum. In both cases, excision repair (measured by unscheduled DNA synthesis) and postreplication repair (PRR) were analyzed. An affected and an unaffected fetus were identified within 3 wk after amniocentesis. The cells from the affected fetus were deficient in excision DNA repair, whereas the PRR patterns were intermediate between those of normal and PRR deficient cells. The possibility of prenatal diagnosis of PRR deficient XP patients (XP variants) is suggested.Keywords
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