A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity.
The specific heterodikaryon complementation results allowed us to allocate a 37-year-old female patient with xeroderma pigmentosum (XP31KO) to complementation group G of rare incidence. A mild form of XP31KO as the third group G patient manifested normal skin reaction to phototest, no physical or neuromental abnormalities, and a basal cell epithelioma, in contrast to the reference group G XP2BI. XP31KO cells showed 25% unscheduled DNA synthesis (UDS) after 10 J/m2 UV compared to less than 5% UDS in XP2BI cells and less hypersensitive responses to UV radiation and 4-nitroquinoline-1-oxide killings than did XP2BI cells. Such a repair phenotype of XP31KO presents an intragroup-G heterogeneity.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005816:Genetic Complementation Test; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*; D014983:Xeroderma Pigmentosum / Q000235:genetics*