title: XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ.
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.
authors.affiliation: Department of Biosciences at Novum, Karolinska Institute, 14157 Huddinge, Sweden. kari.hemminki@cnt.ki.se
authors.forename: K
authors.initials: K
authors.lastname: Hemminki
authors.forename: G
authors.initials: G
authors.lastname: Xu
authors.forename: S
authors.initials: S
authors.lastname: Angelini
authors.forename: E
authors.initials: E
authors.lastname: Snellman
authors.forename: C T
authors.initials: CT
authors.lastname: Jansen
authors.forename: B
authors.initials: B
authors.lastname: Lambert
authors.forename: S M
authors.initials: SM
authors.lastname: Hou
mesh_terms: D001483:Base Sequence; D004265:DNA Helicases; D017931:DNA Primers; D004260:DNA Repair / Q000235:genetics*; D004268:DNA-Binding Proteins; D005091:Exons; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D014157:Transcription Factors; D051759:Xeroderma Pigmentosum Group D Protein
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D011506:Proteins; D014157:Transcription Factors; D004265:DNA Helicases; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human