Analysis of mutation frequencies of the BRCA1 5382insC and BRCA2 6174delT genes in the population of Ufa city

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.

Keywords

BRCA / DNA mutational analysis / gene frequency / air pollution