A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity

J Invest Dermatol. 1985 Sep;85(3):284-7. doi: 10.1111/1523-1747.ep12276776.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Genetic Complementation Test
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Skin Neoplasms / genetics*
  • Xeroderma Pigmentosum / genetics*