The article presents the clinical-genetic characteristic of the hereditary diseases, syndromes with glaucoma. Currently known 36 clinical-genetic variants with congenital and juvenile glaucoma. In 72.2% of cases of congenital and juvenile glaucoma combined with pathology of the central nervous system microcephaly and mental retardation. In addition identified patients with skeletal abnormalities, an original structure faces, pathology of the skin, joints, kidneys, heart, gemangiomatoz, granulematoz. The severity and variability of clinical manifestations of hereditary diseases and syndromes with congenital or juvenile glaucoma points to the need for early detection, comprehensive examinations of patients from ophthalmologists, pediatricians, neurologists, orthopedists. Given that 44.4% of cases pathology is inherited autosomal dominant or x-forming dominant need to consult a doctor-genetics of families with congenital and juvenile glaucoma for verification of clinical genetic.

The effect of different demographic and social factors on the consent of pregnant women for invasive prenatal diagnosis or rejection of it was analyzed. Pregnant women from the Moscow region were examined in the period from 12.12.2012 till 30.10.2014. 1580 pregnant women were at the risk of chromosomal abnormalities in the fetus of 1: 100 and above. All of them have received genetic counseling. Invasive procedure was carried out in 1164 (73.7%) of them, 416 (26.3%) rejected it. Data on age, place of residence, social status, presence or absence of children, children’s health, the presence or absence of spontaneous abortions have been received. The proportion of women who refused invasive procedure, significantly differed from two genetic counselors c² = 7.8; p = 0.0055). First counselor’s patients significantly more frequently indicated that they feared complications of invasive procedures (63.8% vs 31%), or they could not formulate reasons for the refusal of it (83.3% vs 16.7%). Second counselor’s patients significantly more frequently pointed to the decision to have a child, regardless of his health (70% vs 30%). The results demonstrate the need for national guidelines on prenatal genetic counseling and additional training of geneticists involved in the program of early prenatal screening.

Relevance. Ionizing radon radiation besides the direct effect, also leads to indirect DNA damage caused by oxidative stress as a result of the action of water radiolysis products. It can be assumed the important role of antioxidant response genes in the development of DNA damage, including such recognized biomarkers of genotoxic and carcinogenic effects as chromosomal aberrations. Goal. To study association of polymorphic variants of 3 protective genes: MnSOD, GPx, Tp53 with the frequency of chromosomal aberrations in blood lymphocytes of adolescents who live for a long time under exposure by excessive level of high-LET radon radiation. Materials and methods. Three single-nucleotide variations in genes were genotyped: MnSOD 47C> T (rs4880), GPx 599 C> T (rs1050450), Tp53 215 G> C (rs1042522), in a group of people exposed for extended periods of exposure to radon in elevated concentrations (> 200 Bq/m^{3). Genotyping was carried out using the real-time PCR method using the technology of competing TaqMan probes. The frequency of chromosome aberrations was calculated by light microscopy. Results. ROC curves analysis obtained by results of genotyping of GPx and Tp53 genes, made it possible to identify this genes as possible «satisfactory» predictors associated with an increase in the proportion of aberrant metaphases: the hereditary variant GPx T, rs1050450 (AUC = 0.603, p = 0.04) in the recessive model, and variant Tp53 C, rs1042522 (AUC = 0.634, p = 0.03) also in the recessive model.} Conclusions. Single-nucleotide variations in genes GPx T, rs1050450 and Tp53 C, rs1042522 may be associated with an increased risk of DNA damage in conditions of prolonged radiation low-dose exposure.

The overwhelming majority of cases of hereditary breast cancer are associated with mutations in the BRCA1 and BRCA2 genes. The search for only the BRCA1/2 founder mutations in the Russian population may lead to a number of false-negative results due to the presence of rare genetic damage in these genes. The aim of this study was to search for rare BRCA1 and BRCA2 mutations associated with risk of breast cancer. For this study using neхt-generation sequencing (NGS), a group of 193 breast cancer patients was formed. Results of this research showed that the range of pathogenic variants in BRCA1/2 associated with risk of breast cancer is characterized by a big variety and not limited only to mutations, widespread in the Russian population. As a result of the study, 22 rare heterozygous pathogenic mutations were found in 27 breast cancer patients (14%). Variants with unknown clinical significance in BRCA1/2 , which could be one of the causes of the breast cancer disease, were found in 6 patients. On the basis of our obtained data on rare mutations frequency (14%) and also founder mutations frequency in the group of patients with clinical signs of a hereditary disease in the Russian population (17,6%) it is possible to say with confidence that about 32% breast cancer cases in the group of patients with clinical signs of a hereditary disease were associated with BRCA1/2 mutations.

Spinal and bulbar muscular atrophy (SBMA), or Kennedy’s disease is a X-linked recessive neuromuscular disease. Its frequency is 1/ 400 000 inhabitants/year. In Russia, surveys of SBMA Kennedy on representative sets of patients have not been conducted to date. There are descriptions of only individual patients or family cases. The purpose of this research was to study the extent of CAG repeat in exon 1 of the AR gene in Russian patients. Material for this work was DNA samples isolated from the blood of 111 unrelated male with the incoming diagnosis «SBMA Kennedy’s», 5 relatives of patients, and 41 male with incoming diagnoses «Spinal muscular atrophy», whose age at the time of application was more than 30 years old and no deletions of the SMN1 gene were detected. The medical technology «System for detecting frequent mutation in Kennedy’s spinal atrophy» was introduced into the practical activity of the Research Centre for Medical Genetics. Expansion of 38 or more CAG-repeats was detected in 38 SBMA Kennedy’s patients and two patients among 41 unrelated male from SMA group. The effect of increasing the number of CAG repeats during male meiosis was shown. It was found that more than 80% of Russian patients have a poly-Q tract of 43 to 50 units, which corresponds to the classical form of SBMA with manifestation on fourth decades of lifeline rather mild progression.

Oculodentodigital dysplasia (ODDD) is autosomal dominant disorder caused by mutations in connexin 43 gene caused by heterozygous mutation in the connexin-43 gene (GJA1 caused by heterozygous mutation in the connexin-43 gene (GJA1 caused by heterozygous mutation in the connexin-43 gene (GJA1caused by heterozygous mutation in the connexin-43 gene (GJA1GJA1. Typical features are syndactyly IV-V or III-V fingers with or without feet syndactyly, anomalies of eyes, teeth, nose and hair. In about 30% of patients neurological disorders appear later in life: progressive spastic paraparesis (most common), neurogenic bladder/bowel, ataxia, white matter lesions on MRI. GJA1 mutations are numerous with no common, about 50% of cases are produced by mutations de novo. First Russian DNA-confirmed ODDD cases are presented: 4 unrelated families with 5 affected women age 10-59 yrs. All patients had typical anomalies and neurological symptoms with some inter- and intrafamilial differences. In three cases ODDD was not recognized earlier, preliminary diagnoses were hereditary neurodegenerations, only in 17-year-old patient ODDD was clinically diagnosed in early age. In GJA1 gene(exon 2) three novel mutations were detected: .400_402delAAG (in two families), с.461C>T (p.Thr154Ile) and с.94T>G (p.Phe32Val). In three sporadic cases de novo origin of mutations was proved by parents DNA testing; in family with affected mother and daughter mutation in the mother whose parents were unaffected also evidently occurred de novo .

KBG is a rare hereditary syndrome with an autosomal dominant type of inheritance, characterized by a combination of mental retardation and multiple dysmorphic features. We present the description of a 2 year old girl with a KBG syndrome caused by a newly identified mutation p.2398_2401delGAAA (p.Glu800fs) in the heterozygous state, in the ANKRD11 gene. Based on their own observation and literature data, the clinical and genetic characteristics of the KBG syndrome are summarized.