An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population

Ghada Ben Salah, Nourhene Fendri-Kriaa, Hassen Kamoun, Fakhri Kallabi, Emna Mkaouar-Rebai, Amine Fourati, Hammadi Ayadi, Faiza Fakhfakh
2012 Molecular Biology Reports  
Genetic polymorphisms in DNA repair genes might influence the repair activities of the enzymes predisposing individuals to cancer risk. Owing to the presence of these genetic variants, interethnic differences in DNA repair capacity have been observed in various populations. The present study was undertaken to determine the allele and genotype frequencies of two common non-synony- ) in a healthy Tunisian population and to compare them with HapMap (http://www.hapmap.org/) populations. Also, we
more » ... dicted their eventual functional effect based on bioinformatics tools. The genotypes of 154 healthy and unrelated individuals were determined by PCR-RFLP procedure. Our findings showed a close relatedness with Caucasians from European ancestry which might be explained by the strategic geographic location of Tunisia in the Mediterranean, thus allowing exchanges with Europeans countries. The in silico predictions showed that p.Thr241[Met substitution in XRCC3 protein was predicted as possibly damaging, indicating that it is likely to have functional consequences as well. To the best of our knowledge, this is the first study in this regard in Tunisia. So, these data could provide baseline database and help us to explore the relationship of XRCC3 and XPD polymorphisms with both cancer risk and DNA repair variability in our population.
doi:10.1007/s11033-012-1829-z pmid:22740138 fatcat:77ejkszxg5cm3pf5yi3bdbzatm