Molecular genetic markers of sensitivity to industrial environment factors at miners

Abstract

Background. Active ribosomal genes and DNA repair genes play an important role in restoring genome integrity. Therefore we were studied relationship of active ribosomal genes dose and DNA repair genes polymorphisms with high level of chromosomal disorders in miners.
 Materials and methods. The DNA damage level was assessed using chromosomal aberrations (CA) at 288 coal miners and 676 men in the control group. The dose of active ribosomal gene (AcRG) has been analyzed using Ag-NORS staining regions of chromosomes and cytogenetic semi-quantitative evaluation method. Real-time PCR and allele-specific PCR techniques were used to analyze polymorphic variants of the XPG (rs17655), XPD (rs13181), XRCC2 (rs3218536), and XRCC3 (rs861539) genes.
 Results. A statistically significant (p = 0.0001) increase of the СА level at miners was found in comparison with the control group. The association XPD 2251TG locus with increasing CA level is revealed of in recessive inheritance model (padj = 0.0001). The association XPG 3310GC locus with increasing СА level is revealed at the smoking workers (padj = 0.017). An average dose of AcRG was registered a statistically significant increase in the frequency of single fragments (p = 0.016) at the miners.
 Conclusion. The obtained data on associations of chromosomal aberrations with different variants of DNA repair genes and the dose of active ribosomal genes are useful for the formation of high-risk groups.