Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt.
Xeroderma pigmentosum (XP) has been reported to be unusually frequent among Middle Eastern populations. This report describes the first survey of DNA repair characteristics among Egyptians. Sixteen XP patients were contacted, and biopsies from eight were analyzed for unscheduled DNA synthesis, strand breakage during pyrimidine dimer excision, and complementation groups. The patients were equally distributed between Complementation Groups A and C. Unscheduled synthesis and strand breaks were significantly higher in Group C than in Group A cells. Central nervous system disorders were found in all of the Group A patients and in none of the Group C patients. No clinical symptoms were observed in the heterozygotes. A 2-month-old sib of an XP patient was free of symptoms, but unscheduled synthesis and strand breakage in cultures from this sib were the same as in the related XP homozygote. From the relative frequencies of each complementation group found in various parts of the world, we offer a hypothesis concerning the relative sizes and roles for gene products specified by the alleles or genes corresponding to each complementation group.
D000293:Adolescent; D002478:Cells, Cultured; D002648:Child; D003241:Consanguinity; D003561:Cytarabine / Q000494:pharmacology; D004260:DNA Repair; D004273:DNA, Neoplasm / Q000378:metabolism; D004277:DNA, Single-Stranded / Q000378:metabolism; D004534:Egypt; D005260:Female; D005816:Genetic Complementation Test; D006801:Humans; D006918:Hydroxyurea / Q000494:pharmacology; D007223:Infant; D008297:Male; D010375:Pedigree; D014983:Xeroderma Pigmentosum / Q000235:genetics / Q000378:metabolism*
D004273:DNA, Neoplasm; D004277:DNA, Single-Stranded; D003561:Cytarabine; D006918:Hydroxyurea