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The search for early disease markers and the development of diagnostic systems has recently been expanding within genomics. Genomic deoxyribonucleic acid (DNA), cell-free DNA (cfDNA) and microbiome DNA obtained from different types of samples (tissues, blood and its derivatives, feces, etc.) are used as objects of genetic research. It has been shown that cfDNA that enters the bloodstream, in particular, as a result of apoptosis, necrosis, active tumor secretion and metastasis, is of great importance for studying molecular mechanisms of the pathological process and application in clinical practice. Circulating nucleic acid analysis can be used to monitor response to treatment, assess drug resistance, and quantify minimal residual disease. The review article reflects the following information about the biomaterial: source of cfDNA, methods of cfDNA isolation, storage and use for the diagnosis of certain diseases. Cell-free DNA can be present in biological fluids such as blood, urine, saliva, synovial and cerebrospinal fluid. In most cases, cfDNA is isolated from blood derivatives (serum and plasma), while it is most correct to use blood plasma for cfDNA isolation. Optimal and economically justifiable is the use of ethylenediaminetetra-acetic acid tubes for taking blood and obtaining plasma with subsequent cfDNA isolation. There is evidence that the optimal shelf life in an ethylenediaminetetra-acetic acid tube from the moment of blood sampling to subsequent isolation is a 2-hour interval. After centrifugation, cfDNA in plasma (or serum) can be stored for a long time at a temperature of -80O C. Storage at -20O C is undesirable, since DNA fragmentation increases.

Aim. To assess biochemical and genetic markers associated with the level of oxidized low density lipoproteides (oxLDL).Material and methods. Patients with various cardiovascular risk according to the SCORE scale were included in this study. Biochemical parameters were measured in blood serum with automatic analyzer Architect C8000 (Abbott, USA). OxLDL level was measured with the hard-phase immune-enzyme assay Oxidized LDL ELIsA (Mercodia, sweden). Genotyping was performed via the Cardio-MetaboChip microarrays (Illumina, USA). Seventeen single-nucleotide polymorphisms (SNP) of the APOB gene were included into analysis: rs676210, rs1042034, rs6728178, rs6754295, rs673548, rs6711016, rs11902417, rs10184054, rs6544366, rs4564803, rs7557067, rs2678379, rs533617, rs679899, rs1801695, rs1367117, rs1042031. The association study between SNP and oxLDL level was performed by the ROC-analysis. Based on results, the group of SNP was selected. According to this group, the total SCORE (TS) showing the level of genetic susceptibility to an increased oxLDL level was calculated.Results. The present study included 717 patients ranging from 28 to 84 years old (with the median of 57), 204 men (28.45%). The oxLDL level varied from 21,03 to 163,72 U/dL (median 68,5) and correlated with the levels of total cholesterol (TC), triglycerides (TG), low density cholesterol (LDL-C), C-reactive protein (C-RP) and apolipoprotein B-100 (ApoB-100). The highest coefficients of correlations (p3 (p

Aim. The aim of the present study was to evaluate the contribution of 11 singlenucleotide polymorphisms (SNPs) and production factors to the development of arterial hypertension (AH) in men in an organized workers cohort of machinebuilding plant.Material and methods. The study included men aged 20-65 years who had contact with production factors (PF) during at least 50% of the working time. Genotyping of 11 SNPs was performed using TaqMan real-time PCR. Data statistical analysis was carried out using statistica 8.0 and SAS, v. 6.12 software.Results. 583 men were included in the study, 205 of those had AH, 378 did not. The groups differed significantly in age, presence of higher education, the frequency of combination of two or more components of the metabolic syndrome and the severity of its individual components: weight, waist circumference, level of total cholesterol, triglycerides, low density lipoprotein cholesterol, glucose. As a result of genotyping, it was found that the frequency distribution of genotypes between groups with and without AH significantly differed for two SNPs — rs2932538 (p=0,0414) in the MOV10 gene and rs4373814 (p=0,0344) in the CACNB2 gene. Combining information on several SNPs in the genetic risk SCORE (GRS) it was shown that the mean value of the total GRS in the groups with and without AH was 0,0382±0,119 and 0,0195±0,111, correspondingly. The differences between the groups were significant (p=0,032). Based on the results of multivariate analysis, it was shown that the independent factors associated with the presence of AH in participants were age (OR=1,057 (1,037-1,076), p=0,0001), the presence of two or more components of the metabolic syndrome (OR=2,519 (1,621-3,914), p=0,0001) and the total GRS, consisting of 11 SNP (OR=1,479 (1,02-2,143), p=0,04). PF adjusting for the age were not associated with the presence of AH.Conclusion. In men, who had direct contact with PF at machine-building plant, GRS consisting of 11 SNPs was an independent factor influencing the presence of AH. The results show the necessity of practical USAge of genetic tests together with traditional risk factors assessment with the aim for increase of AH risk estimation precision and for carrying out individual prevention.

Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and methods. The object of the study: proband with non-compaction cardiomyopathy and his relatives of 1 and 2 degrees of kinship. All participants underwent clinical and instrumental examination including: blood collection for genetic testing, complete cell blood count, biochemical blood assay (levels of total protein, alanine-aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin, urea, creatinine, uric acid, potassium, sodium, creatinekinase, MB-fraction of creatinekinase, brain natriuretic peptides, C-reactive protein), coagulation profile (partial thromboplastin time, thrombin clotting time, levels of antithrombin III, INR, D-dimer), ECG, Holter ECG monitoring, cardiac MRI). The non-compaction myocardium was diagnosed according to echocardiographic criteria of non-compaction myocardium. Sequencing was performed with genomic sequenator Illumina HiSeq 1500 (Illumina, USA). Genomic libraries were prepared with Kapa Library Amplification Kit (Roche, Switzerland), NimbleGen SeqCap EZ Exome v3.0 (Roche, Switzerland) were used for exome enrichment. Then bioinformatic analysis was done; variants in 188 genes associated with any cardiomyopathy development were prioritized and assessed for pathogenenity.Results. Proband was diagnosed with myofibrillar myopathy and familial form of non-compaction cardiomyopathy (according to MRI and echocardiographic criteria). Novel probably pathogenic variant was found in DES gene — c.330_338del. Other pathogenic and probably pathogenic variants were not found. Conclusion. Novel variant of DES gene c.330_338del is probably responsible for the development of myofibrillar myopathy and non-compaction cardiomyopathy.