Scientific journal
Scientific Review. Biological science
ISSN 2500-3399
ПИ №ФС77-57454

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MOLECULAR-GENETIC ANALYSIS OF REPAIR AND CELL CYCLE CONTROL SYSTEMS’ GENE POLYMORPHISMS FOR MISCARRIAGE

Kutsyn K.A. 1 Kovalenko K.A. 1 Mashkina E.V. 1 Shkurat T.P. 1
1 Southern federal university
In this study we assessed the association of repair (APEX 1, ERCC2 (XPD)) and cell cycle control system (CHEK2) gene variants in chorion and blood samples from females with the miscarriage. The following polymorphic alleles were tested: APEX1 Asp148Glu, ERCC2 Lys751Gln, СНЕК2 1100delC. During assay of the blood samples genotype and gene variant frequency analysis did not reveal any significant difference between controls and spontaneous abortion group. During analysis of the chorionic samples significant difference in genotype and gene variant frequency for 1100delC polymorphism of СНЕК2 gene was unraveled between controls and undeveloping pregnancy group (X2=4,15, Р=0,04). In the spontaneous abortion group decreasing of part of normal homozygotes for ERCC2 Lys751Gln and СНЕК 2 1100delC polymorphisms and increasing of part of Gln/Gln and -/- occurs in comparison with controls (%2=6,05, Р=0,05 and %2=7,13, Р=0,03, respectively). Also significant differences in ERCC2 Lys751Gln and 1100delC СНЕК2 gene variants frequency were revealed between control and undeveloping pregnancy groups (%2=3,84, Р=0,05 and %2=8,55, Р=0,003). Our results suggest that the presence of the polymorphic variants of repair system genes in the genotype lead to the spontaneous abortion susceptibility.