Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair.
The analysis of DNA repair processes is described in two pregnancies at risk for xeroderma pigmentosum. In both cases, excision repair (measured by unscheduled DNA synthesis) and postreplication repair were analyzed. An affected and an unaffected fetus were identified within 3 weeks after amniocentesis. The cells from the affected fetus were found to be deficient in excision DNA repair, whereas the PRR patterns were intermediate between those of normal and PRR deficient cells. This indicates the possibility of prenatal diagnosis of PRR deficient XP patients (XP variants).
D000653:Amniotic Fluid / Q000166:cytology*; D002478:Cells, Cultured; D002675:Child, Preschool; D004260:DNA Repair; D004261:DNA Replication; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk; D012878:Skin Neoplasms / Q000175:diagnosis; D014983:Xeroderma Pigmentosum / Q000175:diagnosis*