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Analysis of mutation frequencies of the BRCA1 5382insC and BRCA2 6174delT genes in the population of Ufa city
- Authors: Tselousova O.S.1, Ovsyannikova L.B.1, Stepanov E.G.2,3
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Affiliations:
- Bashkir State Medical University
- Ufa Research Institute of Occupational Medicine and Human Ecology
- Ufa State Petroleum Technological University
- Issue: Vol 20, No 1 (2022)
- Pages: 41-47
- Section: Human ecological genetics
- URL: https://journals.eco-vector.com/ecolgenet/article/view/76465
- DOI: https://doi.org/10.17816/ecogen76465
- ID: 76465
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Abstract
BACKGROUND: Currently, there is an acute problem of assessing the real genetic danger and the impact of environmental pollution on human health. One of the cities that is affected by the whole complex of anthropogenic mutagenic factors is Ufa (Republic of Bashkortostan).
AIM: The aim of the study was to analyze the frequency of pathogenic mutations in the BRCA1 5382insC and BRCA2 6174delT genes in healthy residents of an industrial city.
MATERIALS AND METHODS: The mutations were determined by real-time PCR using the TaqMan probe technology on the Bio-Rad CFX96 device (Bio-Rad, USA) in accordance with protocol in 379 DNA samples of healthy residents of average age (18.32 ± 0.45 years).
RESULTS: The total mutations frequency in the BRCA1 and BRCA2 genes reached 4.22% (n = 16). The highest frequency of mutant alleles in the BRCA1 and BRCA2 genes of 6.18% (n = 11) was present in residents of the 1 observation area, where petrochemical production enterprises are concentrated. The mutant homozygous genotype of the BRCA2 gene was detected in 3.37% of cases only among residents of the 1 observation area (n = 6, p = 0.0002). The risk of formation of mutations in the BRCA2 gene is 6 times higher in residents of the 1 observation area (χ2 = 7.75; df 1; p = 0.006; OR 6.31; 95% CI 1.44–27.67).
CONCLUSIONS: The frequency of the BRCA family genes varies depending on the studied region, the degree of environmental pollution and the studied group.
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About the authors
Olga S. Tselousova
Bashkir State Medical University
Author for correspondence.
Email: Olga.tselousova@gmail.com
ORCID iD: 0000-0002-9124-9340
SPIN-code: 3912-5213
Scopus Author ID: 35072340800
Cand. Sci. (Biol.), Associate Professor
Russian Federation, UfaLyudmila B. Ovsyannikova
Bashkir State Medical University
Email: Ovsyannikova-mpd@mail.ru
ORCID iD: 0000-0001-5233-1942
SPIN-code: 2048-4767
Dr. Sci. (Med.), Professor
Russian Federation, UfaEvgeny G. Stepanov
Ufa Research Institute of Occupational Medicine and Human Ecology; Ufa State Petroleum Technological University
Email: doctorse@mail.ru
ORCID iD: 0000-0002-1917-8998
SPIN-code: 5386-8869
Cans. Sci. (Med.), Associate Professor
Russian Federation, Ufa; UfaReferences
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