The effects of DNA repair polymorphisms on chromosome aberrations in the population of Kazakhstan

Abstract

Purpose: To analyze the effects of DNA repair polymorphism and other factors on the frequency chromosome aberrations in an irradiated cohort of subjects living around the Semipalatinsk nuclear test site and non-exposed group of subjects from ecologically favorable zones of Kazakhstan.

Materials and methods: Blood samples were collected in the rural areas of the East Kazakhstan district around the Semipalatinsk nuclear test site and ecologically favorable zones of Almaty region of Kazakhstan. Chromosome aberrations in the fresh and cryopreserved peripheral blood lymphocyte cultures were analyzed by Giemsa staining. Single nucleotide polymorphisms at eight DNA repair genes (XRCC1 rs1799782, XRCC1 rs25487, XRCC3 rs861539, ATM rs1801516, XPD rs1799793, XPD rs13181, APEX1 rs1130409, and hOGG1 rs1052133) were determined by PCR-RFLP method.

Results: The age of donors and smoking significantly affected the frequency of chromosome aberrations among the irradiated and control subjects. In the irradiated and control cohorts, the frequency of chromosome aberrations was significantly increased in the heterozygous ATM rs1801516 (1853 Asp/Asn) individuals; for the rest of the loci no significant associations between polymorphism and the frequency of chromosome aberrations were detected.

Conclusions: The age of donors, smoking, and the ATM rs1801516 polymorphism significantly affect the frequency of chromosome aberrations among individuals inhabiting contaminated area around the Semipalatinsk nuclear weapon test site, as well as among those inhabiting ecologically favorable zones of Kazakhstan.

Keywords:

• DNA repair
• chromosome aberrations
• ionizing radiation
• Semipalatinsk Test Site

Acknowledgments

The authors thank Feruza Muratova for her curtail contribution to experimental implementation of research, Rakhimbek Zhapbasov for his help with blood sample collection, Almira Amirgalieva for the maintenance of blood and DNA biosample bank and the staff of the Laboratory of Molecular Genetics and Laboratory of Genetic Monitoring, Institute of General Genetics and Cytology for their support of this research.

Disclosure statement

The authors declare that there are no conflicts of interest.

Additional information

Funding

The work was supported by the Committee of Science of Ministry of Education and Science of Republic of Kazakhstan research grant “Maintenance and replenishment of the unique genebank representing the radiation-irradiated populations of Kazakhstan, and the assessment of genetic risk for the population of the Semipalatinsk region” [registration number 0112РК00186] and educational grant for PhD student “Association analysis of DNA repair gene polymorphisms with radiosensitivity at inhabitants of Semipalatinsk region”.

Notes on contributors

Leyla Djansugurova

Leyla Djansugurova, DrSci, PhD, is the head of the Institute of General Genetics and Cytology, Almaty, Kazakhstan.

Nazym Altynova

Nazym Altynova (nee Bolegenova), PhD, is a Senior Research Fellow at the Laboratory of Molecular Genetics, Institute of General Genetics and Cytology, Almaty, Kazakhstan.

Oksana Cherednichenko

Oksana Cherednichenko, DrSci, PhD, is a head of the Laboratory of Genetic Monitoring, Institute of General Genetics and Cytology, Almaty, Kazakhstan.

Elmira Khussainova

Elmira Khussainova, DrSci, PhD, is a head of the Laboratory of Population Genetics, Institute of General Genetics and Cytology, Almaty, Kazakhstan.

Yuri E. Dubrova

Yuri E. Dubrova, DrSci, PhD, is a Professor of Genetics at the Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.