Assessment of genetic mutations in the XRCC2 coding region by high resolution melting curve analysis and the risk of differentiated thyroid carcinoma in Iran

Genetics and Molecular Biology

Shima Fayaz¹  Pezhman Fard-esfahani²  Armaghan Fard-esfahani²  Ehsan Mostafavi²  Reza Meshkani¹  Hossein Mirmiranpour¹  Shahnaz Khaghani¹ 

[1] ,Tehran University of Medical Sciences Faculty of Medicine Department of BiochemistryTehran,Iran

关键词: DNA repair;    gene polymorphism;    mutation analysis;   

DOI  :  10.1590/S1415-47572012005000011

来源: SciELO

【 摘 要 】

Homologous recombination (HR) is the major pathway for repairing double strand breaks (DSBs) in eukaryotes and XRCC2 is an essential component of the HR repair machinery. To evaluate the potential role of mutations in gene repair by HR in individuals susceptible to differentiated thyroid carcinoma (DTC) we used high resolution melting (HRM) analysis, a recently introduced method for detecting mutations, to examine the entire XRCC2 coding region in an Iranian population. HRM analysis was used to screen for mutations in three XRCC2 coding regions in 50 patients and 50 controls. There was no variation in the HRM curves obtained from the analysis of exons 1 and 2 in the case and control groups. In exon 3, an Arg188His polymorphism (rs3218536) was detected as a new melting curve group (OR: 1.46; 95%CI: 0.432-4.969; p = 0.38) compared with the normal melting curve. We also found a new Ser150Arg polymorphism in exon 3 of the control group. These findings suggest that genetic variations in the XRCC2 coding region have no potential effects on susceptibility to DTC. However, further studies with larger populations are required to confirm this conclusion.

【 授权许可】

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