Arg194trp And Arg399gln Polymorphisms Of The Dna Repair Gene X-ray Repair Cross-complementing
Turkiye Klinikleri J Med Sci 2004, 24:573-578
Dr. Nurten ERDAL,a Dr. M. Emin ERDAL,b Dr. Kaan SAVAŞOĞLU,b Tuba GÖKDOĞANb
aBiyofizik AD, bTıbbi Biyoloji ve Genetik AD, Mersin Üniversitesi Tıp Fakültesi, MERSİN
Objective: X-ray repair cross-complementing (XRCC1) is one of the genes responsible for the DNA repair mechanism. It plays an important role in the protection of the integrity of the genome and in the development of mutations in hereditary genetic disease and cancer. The XRCC1 gene codes proteins which play a role in the repair of DNA strand breaks caused by active oxygen, ionization and alkylating agents. Functional polymorphism of the XRCC1 gene is a contributing factor for changes in the DNA repair mechanism, which is a risk factor for cancer.
Material and Methods: Codon 194 (Arg→Trp) and codon 399 (Arg→Gln) are functional polymorphisms in the XRCC1 gene. These polymorphisms were determined by Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) in unrelated 75 healty persons. These results were compared with other related investigation results.
Results: Frequencies of Arg and Trp alleles of codon 194 were shown to be 0.94 and 0.06, respectively. However, frequencies of Arg and Gln alleles of codon 399 were 0.65 and 0.35.
Conclusion: With regard to Arg194Trp functional polymorphisms of the XRCC1 gene, our results of allele frequencies are similar to those found in related investigations in American (caucasian) and Colombian populations, but different from others in Taiwanese, American (African-American) and Chinese populations. The other XRCC1 gene polymorphism examined, Arg399Gln, manifested frequencies similar to those found in investigations in Italian, American (caucasian), Finnish and Colombian populations; however, our results are different from those involving Taiwanese, American (African-American), Colombian, Asian and Chinese populations. The alleles at risk appear to vary in different populations and according to cancer type. Therefore, it is very important to determine those alleles exhibiting a heightened cancer risk in our population.
Keywords: Genes, polymorphism, XRCC1 protein
Turkiye Klinikleri J Med Sci 2004, 24:573-578
