In men with reproductive disorders, the frequency of balanced chromosomal rearrangements is higher than in the general population. Sex chromosomes (gonosomes) translocations often have a negative impact on spermatogenesis and male fertility. Regardless of the position of the breakpoint in the X chromosome, in male carriers of X-autosome (X;A) translocations severe disorders of spermatogenesis leading to non-obstructive azoospermia or severe oligozoospermia are detected. Impaired fertility in men with X;A translocations is caused by a meiotic arrest of spermatogenesis. In patients with partially preserved spermatogenesis, an increased rate of aneuploidy in gametes was found. Infertility treatment in such patients is possible with the assisted reproductive techniques (IVF/ICSI) with preimplantation genetic testing of embryos.

Non-invasive prenatal testing (NIPT) is increasingly used in clinical practice. Although positive attitudes toward NIPT have been shown among both pregnant women and health care providers, the clinical use of NIPT has led to ethical debate involving patient organizations, professionals, and the public. The ethical issues raised by NIPT are discussed in relation to the values of free choice, autonomy, free informed consent, avoidance of harm, and equality, fairness and inclusion. This article provides an overview of publications devoted to protecting the autonomy of pregnant women and ensuring informed choices in NIPT in early prenatal screening programs.

Background. Polycystic ovary syndrome (PCOS) is a common and complex endocrinologic disease, with various molecular phenotypes and comorbid conditions. Numerous studies have highlighted oxidative stress as a pivotal factor in the development of PCOS.
Aim: to investigate the associations between polymorphic loci of the genes of antioxidant defense enzymes GPX4 (rs713041), GSTP1 (rs1695) and PON1 (rs662) and the risk of developing PCOS.
Methods. Genotyping analysis was performed by allele-specific method using real-time PCR.
Results. Genotyping analysis revealed that the minor alleles of GPX4 (rs713041) and PON1 (rs662) polymorphic loci were associated with an increased risk of PCOS development. Specifically, the presence of the TT genotype of GPX4 (rs713041) and having at least one copy of the mutant allele of PON1 (rs662) were associated with elevated susceptibility to PCOS.
Conclusions. Polymorphic variants of GPX4 (rs713041) and PON1 (rs662) genes might be a risk factor for PCOS development.

Introduction. Gastric cancer (GC) is a common malignant disease that has a significant impact on patients’ quality of life and mortality rate. Microsatellite instability (MSI) is a genetic change that can influence cancer progression and prognosis. This study examines the frequency of MSI in GC in Russian patients, as well as analyzes its prognostic significance.
Aim: to determine the frequency of MSI in patients with gastric cancer in Russia and its relationship with clinical parameters and determine the prognostic significance.
Methods. The study material included 160 paired samples of tumor and non-tumor tissue from patients undergoing surgery for gastric cancer. Microsatellite instability was determined by DNA fragment analysis using five mononucleotide markers (NR21, NR24, NR27, BAT25 and BAT26). Samples were compared using Fisher’s exact test. For comparisons of more than three groups, the chi-square test was used. Overall probability of survival (OS) was calculated by the Kaplan-Meier product limit method from the date of surgery to death from any cause and compared statistically using the Mantel-Haenszel test.
Results. According to the study results, MSI was found in 28 out of 160 patients, representing 17.5%. When analyzing the associations of MSI with clinical and pathological characteristics of patients, a significant association was revealed with age over 50 years (p=0.038), tumor size (T3-T4) (p=0.017), metastases to regional lymph nodes (N1-N3) (p= 0.028), distant metastases (M1) (p=0.009) and intestinal type according to Lauren’s classification (p=0.046).

Background. Marfan syndrome (MS) is one of the frequently occurring diseases of the connective tissue dysplasia group, with a population prevalence of 2-3 cases per 10000 people. The life expectancy of patients is limited by lesions of the cardiovascular system. Diagnosis is based on the Ghent criteria (2010), in which the detection of a pathogenic mutation in the FBN1 gene is important. The gene, located on the 15th chromosome and containing 66 exons (65 of them coding), currently has more than 3000 nucleotide variants. Databases of pathogenic mutations are constantly updated with information about phenotypic manifestation of variants already described and those found for the first time.
Aim: to study the spectrum of mutations in the FBN1 gene in the Belarusian sample of patients with MS and to evaluate the diagnostic significance of the identified genetic variants.
Methods. The study included 21 unrelated patients with CM. To verify the diagnosis, sequencing of coding sequence was performed in all patients by NGS method. The found substitutions were confirmed by direct Sanger sequencing. The pathogenicity of the identified variants was assessed according to databases (ClinVar, HGMD) and criteria of the American Community of Medical Geneticists (ACMG, 2015).
Results. In 10 out of 21 (47.62 %) patients with clinical diagnosis of Marfan syndrome 10 rare variants of nucleotide sequence of FBN1 gene were detected, three (30 %) of which were detected for the first time. The interpretation of pathogenicity in the ClinVar and HGMD databases differed significantly. Only one of the 7 previously described variants is listed as a pathogenic mutation in both databases (ClinVar, HGMD), 3 variants had uncertain clinical significance (VUS, class III) in the ClinVar database, with one of them (p.Cys1159Tyr) described as diagnostically significant in HGMD (DM, class IV-V). The variant p.Asp2291Gly, represented as VUS in ClinVar, and the replacement p.Cys2674Tyr, pathogenic in ClinVar, were absent in the HGMD database, and the variant p.Cys1956Arg, diagnostically significant in the HGMD database, was not present in ClinVar. The previously described variant p.Cys2617TrpfsTer65 is currently not registered in either database. The variant p.Thr1020Ala was identified as VUS in both bases and was characterized by the most favorable course of the disease. Three variants were detected for the first time and are pathogenic according to ACMG criteria: c.3838G>C (p.Asp1280His), c.7694G>C (p.Cys2565Ser), c.7849T>C (p.Cys2617Arg). The paper provides a detailed description of the phenotypic manifestation of the new mutations. Most of the pathogenic mutations were located in exons 62 and 64.
Conclusions. Ten rare variants in the FBN1 gene were detected, 9 of which were pathogenic according to the ACMG criteria (2015). For 4 (40%) variants the data in ClinVar and HGMD databases differed. The data obtained indicate the need to clarify the interpretation of pathogenicity of some variants in the FBN1 gene. The use of data from the two databases allowed us to confirm the pathogenic status for a significantly larger number of variants. Three new missense variants were pathogenic by in silico predictors and led to a severe course of MS, indicating their diagnostic significance.

Hereditary angioedema is an orphan, genetically determined disease. Today it is one of the most difficult and urgent problems for doctors of all specialties. Repeated potentially dangerous local edema of the skin, mucous membranes and submucosal membranes, as well as a variety of clinical masks of the disease can cause inadequate therapy, unnecessary surgical interventions, disability of patients and pose a threat to their lives. The article presents a clinical case of a disease determined by a new variant of the SERPING1 gene mutation, previously undescribed in the literature and databases.1442_1443insGCTGCGTGCT [p.(Trp482Leufs*19)] in a heterozygous state. Clinical symptoms manifested themselves in the form of abdominal attacks and angioedema, and a quantitative decrease in the level of the C1 inhibitor was found. The identification and study of new mutations in the SERPING1 gene will not only confirm the diagnosis in a timely manner, but also prevent hereditary angioedema.

The article analyzes Russian publications from 1990–2023 on bioethics and genetics/genomics. To collect data on publications, the scientific electronic library Elibrary and the search engine for scientific publications Google Scholar are used. It shows how interest in the study of bioethical aspects of genetics and genomics has increased by showing the increase in the number of publications, and examines which concepts are most often used in the titles, keywords and abstracts of these publications by means of content analysis.