The authors presented an overview of literature, which reflects the results of the recent studies of associations of carrying single nucleotide polymorphisms of the OPRM1 gene for opioid receptors involved in pain perception and response to analgesic therapy. The authors emphasized the phenotypic variability of chronic pain syndrome in patients with oncopathology.

F508del is the major worldwide mutation of the CFTR gene and the main indication for prenatal and preimplantation diagnosis of cystic fibrosis (CF). The CFTRdele2,3(21kb) mutation is second frequent for the Russian Federation after F508del. STR markers linked with CFTR gene analysis in addition to the mutation detection can increase the accuracy of embryo and fetus evaluation results. Mutant chromosome haplotypes should be taken into account. We analyzed STR markers for 151 DNA samples from 17 CF families and 14 non CF families; haplotyped 136 normal unrelated chromosomes, 32 F508del-chromosomes and 7 CFTRdele2,3(21kb) chromosomes. There was no recombination or mutations for 106 meiosis. Our data revealed that mutant chromosome not enough polymorphic for intragenic markers. Extragenic STR markers allowed to individualize mutant chromosome better for contamination problem detection as well. Allele frequencies for polymorphic microsatellites of introns 1, 6a, 8 and 17b were consistent with Caucasian populations. We got new data for heterozygosity rate and allele structure of normal and F508del- and CFTRdele2,3(21kb)-chromosomes for D7S486, D7S655 and D7S677 markers.

Intracranial aneurysm (IA) - a heterogeneous multifactorial disease, resulting in spontaneous subarachnoid hemorrhage, which is based on pathological local diverticulum of walls in arterial blood vessels of the brain. A search for associations of SMAD3 gene rs2289263 and rs6494629 polymorphic variants with the development of IA taking into account symptoms of undifferentiated connective tissue dysplasia (UCTD). The *C*C genotype of rs6494629 proved to be a marker of increased risk of IA with UCTD in women (p = 0,03; c² = 4,3; OR = 2,38; 95% CI 1,03-5,48), *C allele and * C*C genotype of rs2289263 is associated with IA with arterial hypertension (AH) in men (p = 0,03; c² = 4,5; OR = 1,73, 95% CI 1,04-2,87 and p = 0,03; c² = 4,4; OR = 2,19, 95% CI 1,04-4,59, respectively).

Relevance. Glaucoma is a group of chronic eye diseases characterized by a violation of the outflow of the intraocular fluid, which leads to an increase in the level of intraocular pressure beyond tolerant, resulting in the development of glaucomatous optic neuropathy followed by atrophy of the optic nerve and characteristic changes in the visual fields. In the world among the causes of vision loss, glaucoma is second only to cataract. According to statistics, 75-90 million people worldwide have glaucoma, and by 2030 the number of patients is expected to double. Glaucoma is one of the most urgent and important problems in ophthalmology, which is of great medical and social importance due to the high prevalence and severity of disease outcomes. Purpose. The purpose of this work was to study the frequency and spectrum of mutations in the cytochrome P450 gene ( CYP1B1 ) in patients with primary congenital and primary open-angle glaucoma from the Republic of Bashkortostan. Materials and methods. The study included 54 DNA samples (14 DNA patients and 40 members of their families) from 14 unrelated families, diagnosed with primary congenital glaucoma, and 215 DNA samples of patients unrelated to each other, diagnosed with primary open angle glaucoma and 250 healthy DNA samples not related individuals. Genomic DNA was collected from the peripheral blood of all participants. The coding sequence of the CYP1B1 gene was amplified by PCR from the genomic DNA, followed by SSCP analysis followed by DNA re-sequencing of patients with altered conformational mobility. The functional significance of the detected changes in the nucleotide sequence of the CYP1B1 gene was assessed using the PolyPhen, SIFT, PhD-SNP, SNAP, Meta-SNP, PANTHER, SNPs & GO, MutationAssessor, Human Splicing Finder programs. Results. In patients with clinical diagnosis, primary open-angle glaucoma identified 4 single nucleotide variants, three of which have not been previously described (c.108C> A, c.109C> G, c.113G> A), and one polymorphic version (rs10012 (c.142C>G)).

The study included 100 women of the Kyrgyz ethnic group with the morphologically verified diagnosis of breast cancer (BC) from National cancer center of Bishkek (Kyrgyz Republic) in the period 2013-2015 years. The average age of patients with breast cancer was 47,6 ± 10,0 years (age interval is 23,5-74,1 years). Genotyping of single-nucleotide polymorphisms (SNPs) p.Q399R ( XRCC1 ), p.R194W ( XRCC1 ), p.P72R ( TP53 ) and c.309T>G ( MDM2 ) was performed using PCR-RFLP. Comparison of results of the analysis of genotyping and morphological characteristics of a tumor node in the examined subgroups used the Fisher’s exact test. For comparison of quantitative data after checking for homoscedasticity and the normality of distribution using the method of variance analysis ANOVA. Statistical data processing was performed using Microsoft Excel (Microsoft Corporation, USA) and SPSS v.20.0 (IBM, USA). For SNPs p.P72R ( TP53 ) and p.R194W ( XRCC1 ) there are a statistically significant association with age verification of diagnosis of breast cancer. For 78,0% (71/91) of the patients with genotype CG/GG for SNP p.P72R ( TP53 ) was diagnosed to 55 years, for 55,6% (5/9) of the patients with genotype CC was diagnosed after 55 years, p = 0,041. For the polymorphism p.R194W ( XRCC1 ) were shown statistically significant association with age verification of diagnosis of breast cancer: for patients with genotype CC of the calculated value made up of 46,12 ± 10,21 years, for patients with genotypes TT/CT - of 50,98 ± 8,70, p = 0,024. At the same time, multivariate analysis of variance no showed relationship between age verification of breast cancer diagnosis and genotyping data at the SNPs p.Q399R ( XRCC1 ), p.R194W ( XRCC1 ), p.P72R ( TP53 ) and c.309T>G ( MDM2 ). Also revealed no statistically significant differences between the results of genotyping and histological type of the tumor, the values of the TNM-classification and the degree of differentiation of the tumor.

Tyrosinemia type I (TH1) is an inborn autosomal recessive disorder of tyrosine catabolism caused by defective strength of fumarylacetoacetate hydrolase and mutations in FAH gene. The frequency of TH1 is approximately one in 100,000 to 120,000 live births worldwide. Several regions of the world have a higher expected frequency of TH1 due to an increased frequency of certain pathogenic variants resulting from the founder effect. In Norway, Finland and province of Quebec (Canada) the birth incidence is estimated as 1:74,000, 1:60,000 and 1:16,000 for live births, respectively. The frequency of TH1in whole Russia and in its regions is not known. To study the frequency and spectrum of mutations of HT1 in the Russian Federation, a number of ethnic groups belonging to different linguistic and geographical regions were explored. The mutation c.1025 C>T (Pro342Leu) whish constist (33.3% of all the mutant HT1 alleles) and is specific to the Chechen ethnic group. Among 296 newborn DBS from Chechen Republic, heterozygous carriers were found at a frequency of 0.0236 (the frequency of the mutant allele is 0.0118), which causes the calculated incidence rate HT1 at 1:7152, one of the most frequent rates worldwide. No single case of mutation of the pool leading to this disease was found among 201 newborn DBS from Dagestan. A previously undocumented mutation c.1090 G>C (Glu364Gln) was found in three Yakut, Buryat and Nenets patients in homozygous state. Detection of the ethno-specific mutations associated with HT1 in different populations of the Russian Federation is probably due to the founder effect.