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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Main Authors: Márcia Cristina Duarte, Jucimara Colombo, Andréa Regina Baptista Rossit, Ana Elizabete Silva
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2005-09-01
Series:Genetics and Molecular Biology
Subjects:
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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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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