The paper presents review of the mechanisms of adverse effects of medications in human fetus, as well as available data illuminating possible role of maternal and fetal genomes in response to adverse drug reactions induced by treatment of pregnancy-related health conditions.

The review presents the modern point of view on the pharmacokinetics of chemotherapeutic antibacterial agents and its relationship with pharmacogenetics as the basis for personalized therapy. A large set of data on the most studied polymorphic variants of genes for 1 and 2 phase biotransformation of xenobiotics, their prevalence in various populations and indirect clinically significant effects is systematized. The research data are analyzed related to the genes that account for undesirable side effects with respect to the class of antibiotic. The role of polymorphic genes involved in the biotransformation of xenobiotics in the formation of undesirable side reactions and poor response to antibacterial drugs is discussed. Genotyping patients in order to separate the fast and slow metabolizers and to isolate the groups at risk for the formation of undesired side reactions is a promising trend in the modern medicine that can have a positive social and economic effect.

The load and diversity of monogenic hereditary diseases (MHD) of Cherkessk town of Karachai-Cherkess Republic (KChR) is reviewed. The number of totally investigate population was 109 129 people. The analysis was performed for the all town populations and separately for the representatives of the main nations of KChR (Russian, Karachai, Cherkess, Abaza, Nogai). Nosological spectrum of MHD was 84 diseases: 46 with an autosomal dominant (AD) mode of inheritance, 27 with autosomal recessive (AR) and 11 X-linked. The load and prevalence of the MHD, frequent and rare nosological forms, the accumulation of some diseases in nations was determined. For 14 MHD (96 patients) diagnostics was carried out for DNA.

Aim: To study an association of the G276Т polymorphism of the adiponectin ( ADIPOQ ) gene with type 2 diabetes mellitus (T2DM) in Kyrgyz Population. Materials and Methods: We examined 107 patients (female - 47, male - 60) with T2DM and 181 apparently health controls (female - 96, male - 85). The genotypes for adiponectin polymorphism G276T were determined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Results: The frequency of the variant T allele and genotype GT and TT of 276 ADIPOQ gene was significantly higher among T2DM patients compared with control subjects (c² = 4,98; р = 0,026 for allele; c² = 6,31, р = 0,043 for genotype). Subjects having the T-allele of SNP276 had 1,57-fold [OR = 1,57 (1,07-2,30); p = 0,026] higher risk of developing T2DM compared with subjects carrying neither of these alleles. Individuals carrying the G/Т genotype of 276 ADIPOQ gene had 1,62 fold [OR = 1,62 (1,01-2,62); p = 0,043] higher risk of T2DM than subjects homozygous for the common GG-genotype. The G allele as well as homozygous genotype G/G of the polymorphic locus gene are significantly protective against the development of type 2 diabetes [OR = 0,64 (0,43-0,93); p = 0,026 and OR = 0,55 (0,34-0,90); p = 0,043, respectively]. Conclusion: In kyrgyz population the T allele and G/T genotype of polymorphism loci G276T of ADIPOQ gene is associated with T2DM.

Aim: To define the main genetic risk factors of venous thromboembolism (VTE) in young adults and reveal gender-related distinctions in their frequency in VTE patients. Methods and results: Two hundred and fifty patients with VTE - 119 men and 131 women, mean age 37.4 years (from 10 up to 45 years old) were studied. The control group consisted of 191 age- and sex-matched healthy persons without thrombotic history. Patients and controls were genotyped for nine DNA polymorphisms: b-subunit of the factor I (FI) - 455 G/A, FI a-subunit Thr312Ala, FII 20210 G/A, FV 1691 G/A, FXII 46 C/T, FXIII A-subunit Val34Leu, PAI-1 - 675 4G/5G, TPA 311 bp I/D, EPCR Ser219Gly. Statistically significant associations with VTE were identified for FII 20210 G/A genotype (OR = 6,3; 95%CI: 1,9-21,4; р = 0,0005), FV Leiden mutation (OR = 3,8; 95%CI: 1,7-8,3; р = 0,0004), FI 312Ala/Ala (OR = 2,4; 95%CI: 1,2-5,0; р = 0,02) and EPCR 219Gly variant (OR = 1,6; 95%CI: 1,0-2,6; р = 0,04). Sex-dependent differences were found for FXIII and EPCR genotype distributions. Homozygosity for the FXIII 34Leu considerably increased the risk of VTE in women (OR = 2,5; 95%CI: 1,2-6,1 р = 0,023), whereas in men the risk of VTE was associated with heterozygous EPCR 219Ser/Gly variant (OR = 1,6; 95% CI: 0,9-3,5, р = 0,035).

Two genetic variants of GM2 gangliosidosis, Tay-Sachs disease (TS) common in Ashkenazi Jews (gene HEXA ) and Sandhoff disease (gene HEXB ), have rare late-onset forms: subacute or juvenile and chronic or adult. A case of chronic TS in a 27-year-old female of mixed ethnicity (Russian mother and Tatar father) with typical combination of spinal amyotrophy and spinocerebellar ataxia is presented. The diagnosis was suspected by correspondence 14 years after disease onset and confirmed by decreased hexosaminidase A level with residual activity 4% and detection of HEXA mutation c.805G>A (p.Gly269Ser) of paternal origin. The mutation is common in chronic TS in Ashkenazi and was also found in few non-Ashkenazi patients, but not in Turkic populations as in our case. This is a first chronic GM2 case in Russia and one of few late-onset TS non-Ashkenazi cases with common Ashkenazi mutation in world literature.