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THE RELATIONSHIP BETWEEN THE FREQUENCY OF CONGENITAL MALFORMATIONS IN NEWBORNS OF WOMEN RESIDING IN AN INDUSTRIAL REGION WITH THE POLYMORPHISM OF THE GENES OF THE BIOTRANSFORMATION SYSTEM


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Abstract

Introduction. There is a number of polymorphic genes, the products of which take part in the biotransformation process and possess of the different activity. As a result of an imbalance in the processes of xenobiotic biotransformation, there is occurred an accumulation of toxic electrophilic compounds, the rise in a mutagenic activity, that can be very important in the formation of congenital malformations. Therefore, the study of the association of gene polymorphisms of the first and second phases of biotransformation with various congenital malformations is topical. The aim of the study. To investigate the role of the polymorphism of genes of the xenobiotic biotransformation system (CYP1A2*1F, GSTT1, GSTM1) encoding the enzymes I and II detoxification phases in women with the complicated obstetric history, residing in an industrial region. Material and methods. A survey of 53 women of reproductive age living in the territory of Novokuznetsk was carried out. The comparison group (the control) consisted of 27 women. These women did not have spontaneous miscarriages, and they carried the fetus to term without congenital malformations. The study group included 26 women who gave birth to babies with congenital malformations. Genomic DNA was isolated by the phenol-chloroform extraction method followed by the ethanol precipitation. The molecular and genetic analysis of the gene polymorphism of cytochrome 1A2 (CYP1A2), glutathione S-transferase τ-1 (GSTT1) and glutathione S-transferase μ-1 (GSTM1) was carried out using Real-Time mode. Results. A high risk of congenital fetal malformations in women with the A/A CYP1A2*1F genotype and resistance to these pathologies in the presence of a heterozygous form of the gene C/A CYP1A2*1F was revealed. The relationship between the high risk of stillbirth due to the placental insufficiency in women with deletion polymorphism of the gene GSTM1 “-”, while the normal functioning gene GSTM1 “+” was associated with the resistance to antenatal fetal death.


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