XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ.
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.
Hemminki
K
K
Department of Biosciences at Novum, Karolinska Institute, 14157 Huddinge, Sweden. kari.hemminki@cnt.ki.se
Xu
G
G
Angelini
S
S
Snellman
E
E
Jansen
C T
CT
Lambert
B
B
Hou
S M
SM
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
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