Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum.
UV-repair activity was studied in two sibs affected by XP showing different clinical symptoms. Complementation studies indicated that both patients fit into complementation group A. The levels of UV-induced 3H-thymidine incorporation, in fibroblasts and in lymphocytes, are different in the two patients: residual level of repair DNA synthesis in the sister is higher than in the brother. In one of the cell samples analyzed UDS analysis showed that in the sister a low proportion of cells with normal repair synthesis is present.
D000293:Adolescent; D002648:Child; D004260:DNA Repair; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005816:Genetic Complementation Test; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000235:genetics*