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Genetics and Molecular Biology
On-line version ISSN 1678-4685
DUARTE, Márcia Cristina; COLOMBO, Jucimara; ROSSIT, Andréa Regina Baptista and SILVA, Ana Elizabete. Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population. Genet. Mol. Biol. [online]. 2005, vol.28, n.3, pp. 397-401. ISSN 1678-4685. http://dx.doi.org/10.1590/S1415-47572005000300011.
In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. The frequency of the polymorphic alleles varies among populations, suggesting an ethnic distribution of genotypes. We genotyped 300 healthy Southeastern Brazilian individuals (262 of European ancestry and 38 of African ancestry) for polymorphisms of codons 194 and 399 of the XRCC1 base excision repair pathway gene and of codon 241 of the XRCC3 homologous recombination repair pathway gene. The allele frequencies were 0.07 for the Arg194Trp and 0.33 for the Arg399Gln codons of the XRCC1 gene and 0.35 for the Thr241Met codon of the XRCC3 gene. The genotypic frequencies were within Hardy-Weinberg equilibrium. These frequencies showed ethnic variability when compared with those obtained for different populations from several countries.
Keywords : DNA repair; XRCC1; XRCC3; polymorphism; ethnic variability.