Journal Article

<i>XPD</i> exon 10 and 23 polymorphisms and DNA repair in human skin <i>in situ</i>

Kari Hemminki, Guogang Xu, Sabrina Angelini, Erna Snellman, Christer T. Jansen, Bo Lambert and Sai-Mei Hou

in Carcinogenesis

Volume 22, issue 8, pages 1185-1188
Published in print August 2001 | ISSN: 0143-3334
Published online August 2001 | e-ISSN: 1460-2180 | DOI:
XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ

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  • Clinical Cytogenetics and Molecular Genetics


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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 ~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.

Keywords: CPDs, cyclobutane pyrimidine dimers; NER, nucleotide excision repair; SNPs, single nucleotide polymorphisms; SSR, solar simulating radiation; UVR, UV radiation; XPD, xeroderma pigmentosum complementation group D.

Journal Article.  3591 words. 

Subjects: Clinical Cytogenetics and Molecular Genetics

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