Arg194trp And Arg399gln Polymorphisms Of The Dna Repair Gene X-ray Repair Cross-complementing

Yazan: admin Tarih: Ağu 31st, 2008 | Kategori:: polymorphisms

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


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Glutathione S-transferase gene polymorphisms in Turkish patients with diabetes mellitus.

Yazan: admin Tarih: Ağu 23rd, 2008 | Kategori:: Diabetes Mellitus, GSTM1

Cell Biochem Funct. 2007 Sep-Oct;25(5):509-13.

Yalin S, Hatungil R, Tamer L, Ates NA, Dogruer N, Yildirim H, Karakas S, Atik U.

Department of Biochemistry, Mersin University Pharmacy School, Mersin, Turkey. syalin01@hotmail.com

Glutathione S-transferases (GSTs) are enzymes involved in the metabolism of many disease-causing electrophilic substrates and protect the cells against oxidative stress. In the present study, we investigated the GSTM1, GSTT1 and GSTP1 gene polymorphisms in diabetic patients and healthy individuals and searched whether polymorphisms in GST genes are associated with diabetes mellitus (DM) in the Turkish population. The study population consisted of 98 unrelated healthy individuals and 98 patients with DM. Genotyping of GSTM1, GSTT1 and GSTP1 genes was performed using real time polymerase chain reaction with a Light Cycler instrument. Patients had a higher frequency of the GSTM1 null genotype than the control group (Odds ratios, OR = 3.7; 95% confidence intervals, CI = 2.05-6.70). However, there was no significant difference in the frequencies of the GSTT1 and GSTP1 gene polymorphisms between the patients and control group. The combined analysis of these three GST genotypes showed a further DM risk increase (OR = 5.7, 95% CI = 1.51-31.07). This is the first study to determine the association of diabetes with GST gene polymorphism in the Turkish population. These results show that GSTM1 null genotype may play a significant role in the aetiopathogeneses of DM and the GSTM1 gene may be a useful marker in the prediction of DM susceptibility of the Turkish population.


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