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

Fayaz S, Fard-Esfahani P, Fard-Esfahani A, Mostafavi E, Meshkani R, Mirmiranpour H, Khaghani S - Genet. Mol. Biol. (2012)

Bottom Line: In exon 3, an Arg(188)His 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Biochemistry, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

ABSTRACT
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 Arg(188)His 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 Ser(150)Arg 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.

No MeSH data available.


Related in: MedlinePlus

Multiple protein sequence alignment of a selected region of Homo sapiens XRCC2 with that of other species. Highlighted amino acids represent Ser150 and Arg188 of H. sapiens XRCC2 compared with other species.
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f2-gmb-35-1-32: Multiple protein sequence alignment of a selected region of Homo sapiens XRCC2 with that of other species. Highlighted amino acids represent Ser150 and Arg188 of H. sapiens XRCC2 compared with other species.

Mentions: Alignment of the protein sequence of human XRCC2 with that of other species revealed an Arg188His substitution in Gallus gallus and Pongo abelii (Figure 2). Furthermore, Arg188 is not present at the active site of three XRCC2 proteins. This finding suggests that the Arg188His polymorphism generated in homologous recombination repair pathway may not have severe effects on XRCC2 function and may not influence the susceptibility to cancer in humans.


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

Fayaz S, Fard-Esfahani P, Fard-Esfahani A, Mostafavi E, Meshkani R, Mirmiranpour H, Khaghani S - Genet. Mol. Biol. (2012)

Multiple protein sequence alignment of a selected region of Homo sapiens XRCC2 with that of other species. Highlighted amino acids represent Ser150 and Arg188 of H. sapiens XRCC2 compared with other species.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3313513&req=5

f2-gmb-35-1-32: Multiple protein sequence alignment of a selected region of Homo sapiens XRCC2 with that of other species. Highlighted amino acids represent Ser150 and Arg188 of H. sapiens XRCC2 compared with other species.
Mentions: Alignment of the protein sequence of human XRCC2 with that of other species revealed an Arg188His substitution in Gallus gallus and Pongo abelii (Figure 2). Furthermore, Arg188 is not present at the active site of three XRCC2 proteins. This finding suggests that the Arg188His polymorphism generated in homologous recombination repair pathway may not have severe effects on XRCC2 function and may not influence the susceptibility to cancer in humans.

Bottom Line: In exon 3, an Arg(188)His 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.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.

View Article: PubMed Central - PubMed

Affiliation: Department of Biochemistry, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

ABSTRACT
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 Arg(188)His 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 Ser(150)Arg 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.

No MeSH data available.


Related in: MedlinePlus