Vol. 337 No. 5 (2026)
DOI https://doi.org/10.18799/24131830/2026/5/5193
Cytogenetic and molecular genetic screening of radiation contamination impact on the human genome and public health
Relevance. In the Republic of Kazakhstan, the issue of assessing the health status of population exposed to radiation is becoming increasingly urgent. Particular attention is paid to studies on radiation impact on genome stability in individuals residing near radiation-contaminated areas. Aim. To perform an ecological and genetic assessment of the consequences of exposure from a radioactive waste disposal site. The study included residents of settlements located near the site (industrial zone of Aktau, v. Baskudyk, v. Akshukyr, v. Mangystau-1, and v. Mangystau-5), as well as a control group consisting of residents of the Almaty region, who had no known contact with radioactive contamination. Aim. To monitor the radiation exposure effects on genome stability and the health of residents. Methods. A combination of radiological, cyto- and molecular genetic methods, population-statistical and correlation analyses. Blood samples from residents of radiation-contaminated areas were analyzed using cytogenetic techniques, including the micronucleus assay and chromosomal aberration analysis. Polymerase chain reaction was used to identify polymorphisms in genes involved in DNA repair pathways. Results and conclusions. To estimate the received radiation dose, the authors have constructed a graph illustrating the signal intensity of electron paramagnetic resonance in tooth enamel. The results demonstrated dose-dependent changes in electron paramagnetic resonance signal amplitude in samples obtained from two radiation-affected regions. Cytogenetic analysis revealed a statistically significant increase in the frequency of chromosomal aberrations compared to the spontaneous baseline levels. In the contaminated areas, the frequency of chromosomal abnormalities ranged from 1.0 to 3.5%, while in the control group it ranged from 1.0 to 1.9%. Molecular genetic analysis confirmed the presence of genotypes associated with impaired DNA repair mechanisms. These findings underscore the importance of genetic and environmental monitoring in the assessment of health risks for populations exposed to chronic low-dose radiation.
For citation: Bigaliev A., Cherednichenko O., Shalabayeva K., Kozhakhmetova A., Myrzatay A. Cytogenetic and molecular genetic screening of radiation contamination impact on the human genome and public health. Bulletin of the Tomsk Polytechnic University. Geo Assets Engineering, 2026, vol. 337, no. 5, pp. 176-186. https://doi.org/10.18799/24131830/2026/5/5193
Keywords:
environment, cytogenetics, molecular genetics, chromosomal abnormalities, gene polymorphism, human health
References:
1. Wright E.G. Radiation-induced genomic instability and bystander effects: implications for human health and cancer risk. Nature Reviews Cancer, 2010, Vol. 10, P. 57–63. DOI: 10.1038/nrc2748.
2. Sapkota A., Cheema A.K., Bondy S.C. Environmental exposures, genomic instability, and health risks: the role of DNA repair and the potential impact of molecular genetics. Environmental Health Perspectives, 2007, Vol. 115, P. 1385–1391. DOI: 10.1289/ehp.9612.
3. Bouville A. Fallout from nuclear weapons tests: environmental, health, political, and sociological considerations. Health Physics, 2020, Vol. 118, № 4, P. 360–381. DOI: 10.1097/HP.0000000000001237.
4. Silachyov I.Y. Instrumental neutron activation analysis of rhenium in uranium raw material. International Journal of Biology and Chemistry, 2020, Vol. 13, P. 161–169. DOI: 10.26577/ijbch.2020.v13.i1.17.
5. MacGregor J.T., Casciano D., Müller L. Strategies and testing methods for identifying mutagenic risks. Mutation Research, 2000, Vol. 455, P. 3–20. DOI: 10.1016/s0027-5107(00)00116-0.
6. Coleman C.N., Blakely W.F., Fike J.R., MacVittie T.J., Metting N.F., Mitchell J.B. Molecular and cellular biology of moderate-dose (1–10 Gy) radiation and potential mechanisms of radiation protection: report of a workshop at Bethesda, Maryland, December 17–18, 2001. Radiation Research, 2003, Vol. 159, P. 812–834. DOI: 10.1667/rr3021.
7. Applegate K.E., Rühm W., Wojcik A., Bourguignon M., Brenner A., Hamasaki K. Individual response of humans to ionising radiation: governing factors and importance for radiological protection. Radiation and Environmental Biophysics, 2020, Vol. 59, P. 185–209. DOI: 10.1007/s00411-020-00837-y.
8. Hungerford D.A. Leukocytes cultured from small inocula of whole blood and preparation of metaphase chromosomes by treatment with hypotonic KCl. Stain Technology, 1965, Vol. 40, № 8, P. 333–338. DOI: 10.3109/10520296509116440.
9. Cherednichenko O., Pilyugina A., Nuraliev S. Chronic human exposure to ionizing radiation: individual variability of chromosomal aberration frequencies and G0 radiosensitivities. Mutat. Res/Genetic Toxicology and Environmental Mutagenesis, 2022, № 1. DOI: 10.1016/j. mrgentox.2021.503434.
10. Heuskin A.C., Michiels C., Lucas S. Low dose hypersensitivity following in vitro cell irradiation with charged particles: is the mechanism the same as with X-ray radiation? International Journal of Radiation Biology, 2014, Vol. 90, № 1, P. 81–89. DOI: 10.3109/09553002.2013.835503.
11. Marples B., Collis S.J. Low-dose hyper-radiosensitivity: past, present, and future. International Journal of Radiation Oncology Biology Physics, 2008, Vol. 70, № 5, P. 1310–1318. DOI: 10.1016/j.ijrobp.2007.11.071.
12. Chekhun V.F., Dyomina E.A., Druzhyna M.O. New approach to the approximation of "dose-effect" dependence during the human somatic cells irradiation. Nuclear Physics and Atomic Energy, 2013, Vol. 14, № 3, P. 299–303. DOI: 10.15407/jnpae2013.03.299.
13. Mothersill C., Seymour C. Radiation hormesis and dose response: are our current concepts meaningful or useful? Current Opinion in Toxicology, 2022, Vol. 30, Article ID: 100335. DOI: 10.1016/j.cotox.2022.02.008.
14. Huilgol N. Radiobiology and radiation hormesis: new evidence and its implications for medicine and society. Journal of Radiation and Cancer Research, 2018, Vol. 9, № 3, P. 128. DOI: 10.4103/jrcr.jrcr_14_18.
15. Jargin S.V. Hormesis and radiation safety norms: comments for an update. Human and Experimental Toxicology, 2018, Vol. 37, № 12, P. 1233–1243. DOI: 10.1177/0960327118765332.
16. Давиденкова Е.Ф., Бутомо И.В. Наследственность и здоровье человека. Л.: Знание, 1985. 32 с.
17. Гребнев Д.Ю., Друй А.Е. Снижение уровня эритроцитов с микроядрами после воздействия ионизирующего излучения на фоне парентерального введения аквакомплекса глицеросольвата титана. Электронный научно-образовательный вестник «Здоровье и образование в XXI веке», 2008, Т. 10, № 7, С. 68–79.
18. Ильинских К.К., Новицкий В.В., Ванчугова Н.Н., Ильинских И.Н. Микроядерный тест и цитогенетическая нестабильность. Томск: Изд-во Томского государственного университета, 1991. 272 с.
19. Cherednichenko O., Pilyugina A., Nuraliev S. Сytogenetical bioindication of pesticidal pollution. Pesticides in the Natural Environment: Sources, Health Risks, and Remediation. Eds. P. Singh, S. Singh, M. Sillanpää. 2022. Vol. 10, P. 227–260. DOI: 10.1016/B978-0-323-90489-6.00010-0.
20. Bonassi S., Fenech M., Lando C., Lin Y.P., Ceppi M., Chang W.P., Holland N., Kirsch-Volders M., Zeiger E., Ban S., Barale R., Bigatti M.P., Bolognesi C., Jia C., Giorgio M.Di., Ferguson L.R., Fucic A., Lima O.G., Hrelia P., Krishnaja A.P., Lee T.K., Migliore L., Mikhalevich L., Mirkova E., Mosesso P., Müller W.U., Odagiri Y., Scarffi M.R., Szabova E., Vorobtsova I., Vral A., Zijno A. Human MicroNucleus project: international database comparison for results with the cytokinesis-block micronucleus assay in human lymphocytes: I. Effect of laboratory protocol, scoring criteria, and host factors on the frequency of micronuclei. Environ Mol Mutagen, 2001, Vol. 37 (1), P. 31–45.
21. Haverić A., Gajski G., Beganović A. Medical personnel occupationally exposed to low-dose ionising radiation in Federation of Bosnia and Herzegovina: a cytogenetic study. Mutation Research – Genetic Toxicology and Environmental Mutagenesis, 2022, Vol. 882, P. 503546. DOI: 10.1016/j.mrgentox.2022.503546.
22. Кузьмина Н.С., Мязин А.Е., Лаптева Н.Ш., Рубанович А.В. Исследование аберрантного метилирования в лейкоцитах крови ликвидаторов аварии на Чернобыльской АЭС. Радиационная биология. Радиоэкология, 2014, Т. 54, № 1, С. 127–139. DOI: 10.7868/S0869803114010081
23. Вишневская Т.В., Цыпленкова М.Ю., Исубакова Д.С., Цымбал О.С., Мильто И.В., Тахауов Р.М.. Оценка спектра и частоты хромосомных аберраций в лимфоцитах крови работников объекта использования атомной энергии на протяжении 15 лет трудовой деятельности. Радиационная гигиена, 2025, Т. 18 (1), С. 18–26. DOI: 10.21514/1998-426X-2025-18-1-18-26
24. Lloyd D.C., Edwards A.A., Leonard A., Deknudt G.L., Verschaeve L., Natarajan A.T., Darroudi F., Obe G., Palitti F., Tanzarella C., Tawn E.J. Chromosomal aberrations in human lymphocytes induced in vivo by very low doses of X rays. International Journal of Radiation Biology, 1992, Vol. 61, № 3, P. 335–343. DOI: 10.1080/09553009214551021.
25. Møller P., Azzarelli R., Bruce S.W. Micronuclei as biomarkers of DNA damage, aneuploidy, inducers of chronic inflammation and biomarkers of aging. Mutation Research/Reviews in Mutation Research, 2022, Vol. 789, P. 108415. DOI: 10.1016/j.mrrev.2022.108415.
26. Жижина Г.П. Воздействие малых доз ионизирующего излучения низкой интенсивности на структуру и функции ДНК. Радиационная биология. Радиоэкология, 2011, Т. 51, № 2, С. 218–228. DOI: 10.1134/S0006350911040312
27. Mumbrekar K.D., Goutham H.V., Vadhiraja B.M. Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals. DNA Repair (Amst)., 2016, Vol. 40, P. 27–34. DOI: 10.1016/j.dnarep.2016.02.006.
28. Бигалиев А.Б., Бекманов Б.О., Гончарова Т.Г., Шалабаева К.З., Кожахметова А.Н., Мырзатай А.М. Оценка последствий влияния радиации на устойчивость генома населения территорий, прилегающих к источнику загрязнения. Онкология и радиология Казахстана, 2024, № 3 (73), С. 4–10. DOI: 10.52532/2521-6414-2024-3-73-4-10
29. Bashlykova L.A., Raskosha O.V. Cytogenetic effects in the bone marrow of animals living in conditions of increased natural background radiation. Biology Bulletin, 2023, Vol. 50, № 12, P. 3261–3268. DOI: 10.1134/S1062359023120026.
30. Ақбаев А.М., Мырзатай А.М., Бигалиев А.Б. Исследование генетических эффектов техногенных загрязнителей окружающей среды на природных тест-объектах. Interdisciplinary Science Studies, 2023, № 1. URL: https://ojs.publisher.agency/index.php/ISS/article/view/702 (дата обращения: 16.05.2025).
31. Bigaliev A. Ecogenetic assessment of the consequences of the influence of technogenic pollutants on the stability of the human genome. ES Food & Agroforestry, 2024, Vol. 19, P. 1305. DOI: 10.26577/esfaf.2024.19.1305
32. Lobachevsky P., Leong T., Daly P. Compromized DNA repair as a basis for identification of cancer radiotherapy patients with extreme radiosensitivity. Cancer Letters, 2016, Vol. 383, № 2, P. 212–219. DOI: 10.1016/j.canlet.2016.09.010.
33. Bigaliyev A.B., Kulymbetov A.K. To the issue of restoration and burial of radioactive waste on the example of Koshkar-ata tailing dump. Актуальные проблемы урановой промышленности: материалы Х юбилейной Международной научно-практической конференции. Алматы, 2022. Ч. 2, С. 155–159.
34. Dufloth R.M., Arruda V.O., Heinrich J.K. XRCC1 and XRCC3 polymorphisms and breast cancer risk in a Brazilian population. Breast Cancer Research and Treatment, 2005, Vol. 92, P. 169–174. DOI: 10.1007/s10549-005-1744-z.
35. Bănescu C., Trifa A.P., Demian S. Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemia. BioMed Research International, 2014, Vol. 2014, Art. 213790. DOI: 10.1155/2014/213790.
36. He X.F., W Wei., Li J.L. Association between the XRCC3 T241M polymorphism and risk of cancer: evidence from 157 case-control studies. Gene, 2013, Vol. 523, № 1, P. 10–19. DOI: 10.1016/j.gene.2013.03.071.
37. Nakamura T., Masuda S., Kuchiki A. Effects of radioactive contamination from the Semipalatinsk nuclear test site on behavior related to food choices: a case study of Kazakhstan. Journal of Disaster Research, 2020, Vol. 15, № 8, P. 991–1010. DOI: 10.20965/jdr.2020.p0991.
38. Li H., Ha T.C., Tai B.C. XRCC1 gene polymorphisms and breast cancer risk in different populations: a meta-analysis. The Breast, 2009, Vol. 18, № 3, P. 183–191. DOI: 10.1016/j.breast.2009.03.008.
39. Fang Z., Chen F., Wang X. XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asian population: evidence from a meta-analysis. PLoS One, 2013, Vol. 8, № 6, Art. e64001. DOI: 10.1371/journal.pone.0064001.
40. Aghajanyan A., Suskov I. Transgenerational genomic instability in children of irradiated parents as a result of the Chernobyl Nuclear Accident. Mutat. Res., 2009, Vol. 671, № 1–2. P. 52–57. DOI: 10.1016/j.mrfmmm.2009.08.012
41. Бигалиев А.Б., Бекманов Б.О., Шалабаева К.З., Кожахметова А.Н., Мырзатай А.М. Экогенетическая оценка последствий влияния техногенных загрязнителей на стабильность генома человека. Вестник КазНУ. Серия экологическая, 2024, № 4 (81), С. 44–54. DOI: 10.26577/EJE.2024.v81.i4.a5.
42. Vineis P., Khan A.E. Climate change, air pollution and noncommunicable diseases: a new triad. BMJ Global Health, 2020, Vol. 5, № 5, Art. e002112. DOI: 10.1136/bmjgh-2019-002112.
