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Title:Genetic polymorphisms in homologous recombination repair genes in healthy Slovenian population and their influence on DNA damage
Authors:ID Goričar, Katja (Author)
ID Erčulj, Nina (Author)
ID Zadel, Maja (Author)
ID Dolžan, Vita (Author)
Files:.pdf PDF - Presentation file, download (532,36 KB)
MD5: 73F89171D7E72B7985CABA592EE16B9C
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo OI - Institute of Oncology
Abstract:Background. Homologous recombination (HR) repair is an important mechanism involved in repairing double-strand breaks in DNA and for maintaining genomic stability. Polymorphisms in genes coding for enzymes involved in this pathway may influence the ca pa city for DNA repair. The aim of this study was to select tag single nucleotide polymorphisms (SNPs) in specific genes involved in HR repair, to determine their allele frequencies in a healthy Slovenian population and their influence on DNA damage detected with comet assay. Materials and methods. In total 373 individuals were genotyped for nine tag SNPs in three genes: XRCC3 722C>T, XRCC3 -316A>G, RAD51 -98G>C, RAD51 -61G>T, RAD51 1 522T>G, NBS1 553G>C, NBS1 1197A>G, NBS1 37117C>T and NBS1 3474A>C using competitive allele-specific amplification (KASPar assay). Comet assay was performed in a subgroup of 26 individuals to determine the influence of selected SNPs on DNA damage. Results. We observed that age significantly affected genotype frequencies distribution of XRCC3 -316A>G (P = 0.039) in healthy male blood donors. XRCC3 722C>T (P = 0.005), RAD51 -61G>T IP = 0.023) and NBS1 553G>C (P = 0.008) had a statistically significant influence on DNA damage. Conclusions. XRCC3 722C> T, RAD51 -61 G> T and NBS 1 553G>C polymorphisms significantly affect the repa ir of damaged DNA and may be of clinical importance as they are common in Slovenian population.
Publication status:Published
Publication version:Version of Record
Publication date:01.01.2012
Publisher:Association of Radiology and Oncology
Year of publishing:2012
Number of pages:str. 46-53, IV
Numbering:Vol. 46, no. 1
Source:Ljubljana
PID:20.500.12556/DiRROS-18528 New window
UDC:575.111
ISSN on article:1318-2099
DOI:10.2478/v10019-012-0001-7 New window
COBISS.SI-ID:29380057 New window
Copyright:by Authors
Note:Soavtorji: Nina Erčulj, Maja Zadel, Vita Dolžan; BSDOCID162092;
Publication date in DiRROS:22.03.2024
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Downloads:158
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Record is a part of a journal

Title:Radiology and oncology
Shortened title:Radiol. oncol.
Publisher:Slovenian Medical Society - Section of Radiology, Croatian Medical Association - Croatian Society of Radiology
ISSN:1318-2099
COBISS.SI-ID:32649472 New window

Secondary language

Language:Slovenian
Title:Genetski polimorfizmi poti popravljanja napak na DNA s homologno rekombinacijo v zdravi slovenski populaciji in njihov vpliv na stopnjo poškodb DNA


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