XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ

Carcinogenesis. 2001 Aug;22(8):1185-8. doi: 10.1093/carcin/22.8.1185.

Abstract

Forty-four Finnish volunteers who were previously studied with regard to the repair rate of UV-specific cyclobutane pyrimidine dimers in the skin were genotyped for XPD polymorphisms at codons 312 (exon 10 G-->A, Asp-->Asn) and 751 (exon 23 A-->C, Lys-->Gln). The repair rate was measured at 24 h for two different cyclobutane dimers. The data did not show consistent XPD genotype-specific differences in DNA repair rates among all subjects. The combined exon 10 AA and exon 23 CC genotype was associated with an approximately 50% depression of repair rate but this was of borderline statistical significance. However, the exon 23 C allele was associated with depressed repair among subjects aged 50 years or older and the result was consistent with both dimers.

MeSH terms

  • Base Sequence
  • DNA Helicases*
  • DNA Primers
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Exons*
  • Genotype
  • Humans
  • Polymorphism, Genetic*
  • Proteins / genetics*
  • Transcription Factors*
  • Xeroderma Pigmentosum Group D Protein

Substances

  • DNA Primers
  • DNA-Binding Proteins
  • Proteins
  • Transcription Factors
  • DNA Helicases
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human