Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population
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 Southe...
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Sociedade Brasileira de Genética
2005-09-01
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Series: | Genetics and Molecular Biology |
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Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300011 |
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author | Márcia Cristina Duarte Jucimara Colombo Andréa Regina Baptista Rossit Ana Elizabete Silva |
author_facet | Márcia Cristina Duarte Jucimara Colombo Andréa Regina Baptista Rossit Ana Elizabete Silva |
author_sort | Márcia Cristina Duarte |
collection | DOAJ |
description | 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. |
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institution | Directory Open Access Journal |
issn | 1415-4757 1678-4685 |
language | English |
last_indexed | 2024-04-12T10:58:07Z |
publishDate | 2005-09-01 |
publisher | Sociedade Brasileira de Genética |
record_format | Article |
series | Genetics and Molecular Biology |
spelling | doaj.art-8f943786e0c94c298ec79365c438db8e2022-12-22T03:36:03ZengSociedade Brasileira de GenéticaGenetics and Molecular Biology1415-47571678-46852005-09-0128339740110.1590/S1415-47572005000300011Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian populationMárcia Cristina DuarteJucimara ColomboAndréa Regina Baptista RossitAna Elizabete SilvaIn 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300011DNA repairXRCC1XRCC3polymorphismethnic variability |
spellingShingle | Márcia Cristina Duarte Jucimara Colombo Andréa Regina Baptista Rossit Ana Elizabete Silva Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population Genetics and Molecular Biology DNA repair XRCC1 XRCC3 polymorphism ethnic variability |
title | Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population |
title_full | Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population |
title_fullStr | Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population |
title_full_unstemmed | Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population |
title_short | Polymorphisms of the DNA repair genes XRCC1 and XRCC3 in a Brazilian population |
title_sort | polymorphisms of the dna repair genes xrcc1 and xrcc3 in a brazilian population |
topic | DNA repair XRCC1 XRCC3 polymorphism ethnic variability |
url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300011 |
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