Today migraine takes 9^th place in the list of main reasons of population disability. In Russia migraine prevalence is two times higher than world index; in addition, the disease causes large damage to state economics. Despite almost one-century history of studying migraine, science until now can’t explain many cases of attack occurrence. It causes difficulties also in diagnosis determination and in treatment - the therapy of patients with migraine isn’t sufficiently effective. Today one of the investigation directions is searching of migraine biomarkers confirming diagnosis. In this review we attempted to generalize results of available up to date works direct on genetic markers of migraine searching.

Transmembrane cellular receptors and extracellular matrix components play a fundamental role in regulation of cellular activity, and providing concerted integration of the cells in the tissue structure. We have analyzed DNA methylation at the promoter regions of eight integrin genes ( ITGA1, ITGA2, ITGA3, ITGA4, ITGA6, ITGA7, ITGA9, ITGB1 ), two nidogen genes and a dystroglycan gene in normal breast tissue, as well as in the breast carcinoma samples. Integrin and dystroglycan are transmembrane receptors; nidogens are components of the extracellular matrix. The protein products of these genes are able to interact with proteins of the basement membrane LAMA1, LAMA2 and LAMB1; abnormal methylation of the LAMA1 , LAMA2 and LAMB1 genes in breast cancer had been described in our previous publications. Abnormal methylation frequencies at the promoter regions of genes ITGA1 , ITGA4 , ITGA7 , ITGA9 , NID1 and NID2 in breast cancer accounted for 13.3%, 29.3%, 3.3%, 40.6%, 37.3%, 39.3%, respectively. In our study cohort, DNA methylation at promoter regions of the ITGA4 , ITGA9 and NID1 genes was enriched in HER2 positive tumors, a highly aggressive form of breast cancer.

Allelic polymorphisms associated with the cardiovascular, immune and repairing systems are currently considered as very important in the huge pool of complex factors affecting the longevity. Studies of ageing phenomenon are focused on populations with fairly high proportion of centenarians. In this study, we aimed at searching for the pattern of distribution of CHIT1 gene polymorphic variants among Abkhazians with regard to longevity. The samples of buccal epithelium were subdivided into two parts: a group of elderly subjects, and a control group (79 and 80 individuals, respectively). CHIT1 gene indel-polymorphism (rs3831317) analysis was performed using PCR-AFLP technique. Genotype frequencies in the control group were: TT - 0.70, TH = 0.25, HH = 0.05, T and H allele frequencies were 0.825 and 0.175 respectively. The group of elderlies did not differ significantly from the controls in allele frequencies, and TT/TH/HH genotype frequencies were distributed as 0.54/0.41/0.05. The study showed that the heterozygote proportion of CHIT1 gene is significantly higher in the group of elderly Abkhazians than in the control group.

Bronchial asthma is one of the most common severe and disabling multifactorial diseases. The association analysis of polymorphisms of glucocorticoid receptor gene NR3C1 ( rs41423247 ), corticotropin-releasing hormone receptor 1 gene CRHR1 ( rs242939, rs1876828, rs242941 ), T-box transcription factor gene TBX21 ( rs2240017 ) in asthmatic patients treated with corticosteroids and unrelated healthy from Bashkortostan Republic was performed. The association of NR3C1 polymorphism rs41423247 with decline in lung functions in patients has been revealed. The genotype rs242941*C/A and haplotype AA ( rs242939, rs242941 ) of gene CRHR1 were significantly associated with BA in Bashkirs, while the genotype rs41423247*С/G of gene NR3C1 was associated with BA in Tatars.

Non-invasive prenatal diagnosis of chromosomal disorders is a topical area of modern prenatal medicine. Identification of chromosomal status of the fetus avoiding invasive procedures perhaps by analyzing of trophoblasts circulating in peripheral maternal blood. In this article, we present the results of a model experiment for isolation of trophoblast cells from peripheral blood samples by filtration through polycarbonate filters. Isolation of single cells was performed by laser microdissection followed by a whole genome amplification step. Analysis of genetic material isolated cells was performed by comparative genomic hybridization.

Detection of copy number variations of GC-rich repeated sequences in the structure of damaged DNA by PCR method results in significant understatement of their quantity in genome. We have described the method for analysis of the copy number variations of GC-rich repeat of human genome (mitochondrial, ribosomal and telomeric repeat) in damaged DNA. Comparing to others, these sequences of genome are mostly damaged in extracellular DNA, in DNA of the old cells, in long-stored DNA-samples and in oxidized DNA. The technology is based on the method of non-radioactive quantified dot hybridization with biotin-labeled DNA-probes and on the software designed specially to calculate the copy number of ribosomal genes (genes for rRNA) in extracellular DNA circulating in blood plasma of smokers’ and non-smokers’ humans. We have shown that fragments of GC-rich ribosomal repeat accumulate in extracellular DNA of chronically smoking people, which can be a sign of the intensification of necrotic processes in cells and of the chronic pathology development.