CLINICAL CHARACTERISTICS, DNA-REPAIR, AND COMPLEMENTATION GROUPS IN XERODERMA PIGMENTOSUM PATIENTS FROM EGYPT

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  • 1 January 1980
    • journal article
    • research article
    • Vol. 40  (1) , 13-18
Abstract
Xeroderma pigmentosum (XP) was reported to be unusually frequent among Middle Eastern populations. The 1st survey of DNA repair characteristics among Egyptians was described. Sixteen XP patients were contacted, and biopsies from 8 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. CNS 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 mo. 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, a hypothesis concerning the relative sizes and roles for gene products specified by the alleles or genes corresponding to each complementation group was offered.