Evere forms of male and female infertility, recurrent miscarriage, abnormalities in disorders of sex development are often due to genetic causes or are associated with genetic factors. Genetic examination and counseling of patients with reproductive problems is often limited to the use of standard routine techniques, therefore, it is not possible to identify many hereditary forms of reproductive pathology. Genomic analysis methods can improve the diagnosis of genetic reproductive disorders caused by gene mutations and copy number variations (CNVs), but they are not yet widely used in practical medicine. The article discusses the modern possibilities of medical-genetic examination of infertile men with, as well as the indications and diagnostic algorithms for the genetic causes of male infertility associated with various forms of pathozoospermia.

Background. Despite a comprehensive study of the pathogenesis of the disease, the mechanisms of primary open-angle glaucoma are not completely clear. Currently, the role of aquaporins in the regulation of intraocular pressure has been determined. Mutations were discovered that enhance and decrease the functions of aquaporin 4. The effect of various genetic variants of aquaporins on the value of intraocular pressure is described. The aim of research. To investigate the variability of the polymorphism of aquaporin 4 rs2075575 (C / T) in patients with glaucoma. Materials and methods. 101 persons with primary open-angle glaucoma and 80 persons without glaucoma (the control group) were examined. The age of the subjects ranged from 45 to 87 years. The average age was 66 years. The criterion for inclusion in the main group was the diagnosis of primary open-angle glaucoma of a developed, distant and terminal stage. The criteria for inclusion in the control group were age over 60 years, the absence of glaucoma, the absence of pronounced somatic pathology. DNAs were extracted from buccal epithelium. The polymerase chain reaction (PCR) method was used to determine the polymorphism of the aquaporin gene 4 rs2075575. Results. There was a significant difference in the distribution of genotypes in the study and control groups. СС genotype among patients with glaucoma occurs 1.8 times more often than in the control group. CT genotype, on the contrary, is 1.5 times more often in the control group. The odds ratio (OR) for this genotype is 2.48 (95% CI 1.30 - 4.74). The CT genotype reveals a protective role, OR = 0.52 (95% CI 0.28 - 0.97). The genotype of TT in the studied groups is slightly different in frequency of occurrence. Conclusion. The frequencies of gene polymorphisms of aquaporin 4 rs2075575 (C/Т) in patients with primary open-angle glaucoma and healthy were diverse. The likelihood of developing primary open-angle glaucoma is increased in carriers of the СС genotype. Genotype CT play a protective role for primary open-angle glaucoma.

Background. Aneuploidy is a consequence of the chromosome nondisjunction. Majority of aneuploid embryos die in utero between the 6th and 10th week, resulting in early pregnancy loss of approximately 15% of all clinically recognized pregnancies. SYCP3 plays an important role in pairing and recombination of homologous chromosomes in meiosis I, and it has been shown that the lack of this gene leads to sterility in male and subfertility in female mice due to chromosome nondisjunction. So SYCP3 is a candidate gene to evaluate the hypothesis of fetal aneuploidy arisen from meiosis gene mutations as a cause for human early pregnancy loss. Methods. In our study, the SYCP3 T657C polymorphism in 100 Russian women with early pregnancy loss (EPL) that were classified into 2 subgroups: with sporadic pregnancy loss (SPL, n=50) and recurrent pregnancy loss (RPL, n=50), as well as 56 normal fertile women (control), was examined to determine whether there is an association between the polymorphism and early pregnancy loss in Russian population. Genomic DNA was extracted from peripheral blood samples using the standard procedure of a commercially available kit. Genotyping of SYCP3 gene was determined by allele-specific polymerase chain reaction method. Data were analyzed using SPSS statistical software version 22. The chi-square test and Fisher’s exact test were used to compare genotype and allele frequencies between analyzed groups. The odds ratio (OR) and 95% confidence intervals (CI) were used for risk estimation. Results. Frequency of the heterozygous genotype (CT) was significantly higher in the group of women with early pregnancy loss as well as in women with sporadic pregnancy loss (p<0.05). In women with RPL, we found that the frequency of this genotype tended to increase but could not make a significant difference when compared with the control group. Conclusion. Our findings postulate that the T657C polymorphism of the SYCP3 gene is possibly associated with a sporadic early pregnancy loss.

Introduction. Multiple osteohondromas (MO) is an autosomal dominant inherited skeletal disease characterized by the formation of multiple cartilaginous exostoses in the areas of growth in a long bones. Difficult issues arise for the genetic counseling of families with MO. We presents the clinical and molecular genetic analysis of four-generation Yakut family with an autosomal dominant inherited MO, caused by a rare mutation in the EXT2 gene. Aim: сonducting a clinical, genealogical, molecular genetic study of patients with a clinical diagnosis MO. Methods. Targeted panel sequencing performed for the 4800 known candidate genes using Trusight One Sequencing Panel (Illumina Inc., USA) on one sample (DNA of proband). Sanger sequencing was performed for validation of candidate disease causing mutation in DNA from a proband and family members. Results. A rare EXT2 nonsense mutation (c.751C> T, p.Gln251*) was revealed by targeted exome sequencing and validated by Sanger sequencing in the 7 MO-affected members of this family. The variant was interpreted as pathogenic based on an in silico analysis. This mutation was absent in 4 healthy members of this family and in 10 controls. Conclusions. This is the first study of EXT2 gene mutation in a Russian patients from Yakut family with MO. Timely health care of patients with diagnosis of MO can contribute to establishment coordinated multispecialty management of the patient focusing on the orthopedic problems issues through childhood.

The Research Centre for Medical Genetics (FSBI RCMG) was established based on the Institute of Medical Genetics (IMG) of the USSR Academy of Medical Science. From the very beginning, the structure of the Institute provided for the research departments that would develop the main research areas of that time: population genetics, clinical genetics, cytogenetics and biochemical genetics. The restructuring of the IMG into the All-Union Research Centre for Medical Genetics led to the most noticeable changes in the Institute structure. Research in all major areas of medical genetics, the development of unique methods for the effective diagnosis and treatment of hereditary diseases are currently being carried out at the Center.