A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism

Sikandar G. Khan, E. Metter, Robert E. Tarone, Vilhelm A. Bohr, Lawrence Grossman, Mohammad Hedayati, Sherri J. Bale, Steffen Emmert, Kenneth H. Kraemer

Research output: Contribution to journalArticle

118 Citations (Scopus)

Abstract

We found a common biallelic polymorphism (PAT) in the xeroderma pigmentosum complementation group C (XPC) DNA repair gene consisting of an insertion of 83 bases of A and T [poly(AT)] and a 5 base deletion within intron 9. We developed a PCR assay to resolve the XPC PAT+ and PAT- alleles and found that the PAT+ allele frequency was 0.44 in 156 cancer-free donors from the Johns Hopkins School of Public Health, 0.41 in 263 cancer-free donors from the Baltimore Longitudinal Study of Aging and 0.36 in samples from 216 unselected donors from NIH. We also found a single nucleotide polymorphism in exon 15 of the XPC gene (A2920C, Lys939→Gln) that creates a new enzyme restriction site. This XPC exon 15 single nucleotide polymorphism occurred at a frequency of 0.38 in 98 NIH donors and is in linkage disequilibrium with the PAT locus. We developed an allele-specific complementation assay utilizing post-UV host cell reactivation to assess DNA repair capacity of polymorphic alleles. We found similar DNA repair with XPC 2920A and XPC 2920C. These common polymorphisms in the XPC DNA repair gene may be useful for molecular epidemiological studies of cancer susceptibility.

Original languageEnglish (US)
Pages (from-to)1821-1825
Number of pages5
JournalCarcinogenesis
Volume21
Issue number10
StatePublished - Oct 31 2000
Externally publishedYes

Fingerprint

Poly C
Xeroderma Pigmentosum
DNA Repair
Alleles
Single Nucleotide Polymorphism
Exons
Public Health Schools
Neoplasms
Baltimore
Insertional Mutagenesis
Linkage Disequilibrium
Gene Frequency
Introns
Genes
Longitudinal Studies
Epidemiologic Studies
Polymerase Chain Reaction
Enzymes

All Science Journal Classification (ASJC) codes

  • Cancer Research

Cite this

Khan, S. G., Metter, E., Tarone, R. E., Bohr, V. A., Grossman, L., Hedayati, M., ... Kraemer, K. H. (2000). A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis, 21(10), 1821-1825.

A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. / Khan, Sikandar G.; Metter, E.; Tarone, Robert E.; Bohr, Vilhelm A.; Grossman, Lawrence; Hedayati, Mohammad; Bale, Sherri J.; Emmert, Steffen; Kraemer, Kenneth H.

In: Carcinogenesis, Vol. 21, No. 10, 31.10.2000, p. 1821-1825.

Research output: Contribution to journalArticle

Khan, SG, Metter, E, Tarone, RE, Bohr, VA, Grossman, L, Hedayati, M, Bale, SJ, Emmert, S & Kraemer, KH 2000, 'A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism', Carcinogenesis, vol. 21, no. 10, pp. 1821-1825.
Khan SG, Metter E, Tarone RE, Bohr VA, Grossman L, Hedayati M et al. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis. 2000 Oct 31;21(10):1821-1825.
Khan, Sikandar G. ; Metter, E. ; Tarone, Robert E. ; Bohr, Vilhelm A. ; Grossman, Lawrence ; Hedayati, Mohammad ; Bale, Sherri J. ; Emmert, Steffen ; Kraemer, Kenneth H. / A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. In: Carcinogenesis. 2000 ; Vol. 21, No. 10. pp. 1821-1825.
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