title: Routine autoradiographic analysis of DNA excision-repair. Report of prenatal and postnatal diagnosis in eleven families.
abstract: DNA excision-repair of UV induced damages was investigated by unscheduled DNA synthesis and quantitative autoradiography. The method has been routinely used on lymphocytes for postnatal diagnosis of xeroderma pigmentosum and PIBIDS syndrome. Ten XP-families including 13 clinical XP patients and 9 XP-risk children, and one family with one clinical PIBIDS case and one PIBIDS-risk child were screened. Each of the 14 affected patients were biologically ascertained with a significant excision-repair defect. Among the 9 XP-risk children without clinical manifestations, the DNA excision-repair was defected in 4 cases considered as biological XP, and normal in 5 cases considered as biologically normal subjects. Likewise the PIBIDS-risk child exhibited a normal excision-repair. According to the age of the XP or PIBIDS-risk children, and the delay of appearance of clinical manifestations, the method should not present neither false positive nor false negative results and allows the infraclinical diagnosis. The protocol was extended for prenatal diagnosis on amniocytes and fetal cord blood. Excision-repair analysis on normal cultivated chorionic villi cells has been performed allowing a further first trimester prenatal diagnosis.
authors.affiliation: Service de Génétique Humaine et Pathologie Foetale, Faculté de Médecine, Lille, France.
authors.forename: J B
authors.initials: JB
authors.lastname: Savary
authors.forename: F
authors.initials: F
authors.lastname: Vasseur
authors.forename: M M
authors.initials: MM
authors.lastname: Deminatti
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D001345:Autoradiography; D001773:Blood Cells / Q000378:metabolism; D002824:Chorionic Villi / Q000378:metabolism; D004247:DNA / Q000096:biosynthesis*; D004260:DNA Repair / Q000235:genetics*; D005312:Fetal Blood / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D011296:Prenatal Diagnosis; D012307:Risk Factors; D012867:Skin / Q000378:metabolism; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004247:DNA