Bone tissue is a continuous remodeling system, which is regulated by complex processes of genetic and epigenetic control. Both the first and the second system in osteoporosis, as a rule, have a diversity changes, but epigenetic aspects of this disease is the least understood and it present of great interest from the viewpoint of osteoporosis studying. In this review, we systematized and generalized information about the results of research the study of epigenetic regulation of the central signaling pathways and genes in bone remodeling.

We present a feature of the new version of An International System for Human Cytogenomic Nomenclature - ISCN 2016. This article contains indications of it differences from the ISCN 2013 and analysis of the chapter «Sequens-Based Assay».

We have developed the technology for complex DNA diagnostics of fragile X syndrome, contemporaneous to the current level of the in DNA sequencing methods, assessment of the DNA regional copy number, and detection of abnormal DNA methylation. The technology includes targeted high-throughput parallel DNA sequencing, multiplex amplification of ligated probes (MLPA), and multiplex methylation sensitive PCR. The search for point mutations and short insertions / deletions in the FMR1 and FMR1-AS1 genes was performed using an NGS on the Ion Torrent PGM instrument. In the case of fragile X syndrome, the sequencing methods allow detecting not only single nucleotide substitutions, small insertions and deletions, but also extended deletions observed in probands in the hemizygotus state. Thus, the MLPA of the exons of the FMR1 gene is used within the framework of the present DNA diagnostic technology rather as a confirmatory than the main method. Methylation sensitive PCR is used to detect abnormal methylation of the promoter of the FMR1 gene. Thus, the new technology of complex DNA diagnosis of the fragile X syndrome is aimed at identifying all known molecular genetic abnormalities leading to the development of the disease.

We performed a comprehensive molecular genetic examination of patients with Sotos syndrome. To establish molecular diagnosis of the disease, we applied a set of new medical technologies, including targeted high-throughput parallel DNA sequencing (NGS) and multiplex ligation probe amplification (MLPA). Search for point mutations and small indels in the NSD1 and NFIX genes was carried out with next generation sequencing on the Ion Torrent PGM. To detect extended deletions in these genes MLPA method was used. In a group of patients with clinical features of Sotos syndrome, mutations in either one of the genes under study were detected in 44% of cases. All mutations were detected by NGS and presented either SNVs or deletions 1 to 31 bp long within the coding regions of the NSD1 and NFIX genes. No indels encompassing whole genes or their exons have been detected by MLPA.

We report on a molecular cytogenetic diagnosis of familial complex chromosomal rearrangement. A 5-year-old child with developmental delay and his mother were referred for genetic evaluation. The chromosome analysis of a child revealed a reciprocal translocation t(2;18)(q32;q23)mat. FISH analyses showed that it was not a balanced translocation. A patient had a two derivative chromosomes - der(2), der(18), due to unbalanced segregation of the three-way exchange t(2;3;18) from mother. Hereby the abnormal phenotype of patient can be explained by partial trisomy 2q and partial monosomy 18q. Initially, chromоsomal rearrangement described here was interpreted as balanced translocation. Hоwever, FISH analysis revealed that the rearrangement was far mоre cоmplex than originally proposed invоlving a larger number of chrоmosomes. Only a cоmbination of several different apprоaches was sufficient to resоlve the nature of this complex chromоsomal rearrangement which had an unexpected level of cоmplexity.

The aim of the study was to assesses the relationship between the polymorphisms (rs16944) of the interleukin-1, (rs1800795) of the interleukin-6 and (rs1800896) of the interleukin-10 genes with the development of chronic pancreatitis (CP) in the Russian population. Peripheral venous blood samples were obtained from 233 patients with CP and 132 healthy individuals. Genotyping of polymorphisms of the studied genes was carried out using the PCR method with discrimination of alleles with the TaqMan probes. Was found: the genotype 511CT IL1 (OR = 1,58 95%CI 1,01-2,48, p = 0,04) and the genotype 1082GA IL10 (OR = 1,58 95%CI 1,03-2,42, p = 0,04) were associated with an increased risk of developing chronic pancreatitis. Combinations of genotypes IL1 and IL6 - 511ТТх174GC (OR = 0,46, 95%CI 0,22-0,98, p = 0,04), IL1 and IL10 - 511CCх1082AA (OR = 0,19 95%CI 0,07-0,50, p = 0,0002) and 511ТТх1082GG (OR = 0,41 95%CI 0,17-0,96, p = 0,04); IL6 and IL10 - 174GGх1082GG (OR = 0,42, 95%CI 0,19-0,93, p = 0,03), on the contrary, were associated with low risk of the disease.

Complex karyotype (CK) in patients with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) is a factor of unfavorable prognosis, associated with high frequency of refractory forms and relapses. Precise identification of chromosome abnormalities in CK by conventional cytogenetic analysis (CCA) is limited due to low resolution of this method. Molecular cytogenetic techniques (FISH, mFISH, mBAND) have significantly higher sensitivity and allow to identify complex chromosome abnormalities, marker chromosomes, submicroscopic deletions and specify chromosomes breakpoints. This study included 15 MDS and 11 AML patients whose complex karyotypes were characterized by these methods. mFISH and iFISH are performed in all 26 patients, mBAND is performed in two cases. CCA revealed an average of 7 karyotype abnormalities (from 3 to 21). Structural rearrangements were found in all cases (n = 26): reciprocal translocations (38.4%), deletions (65.3%), additional chromosomal material of unknown origin (69.2%), marker chromosomes (53.8%). Numerical anomalies typical for MDS and AML (n = 26) were found: trisomy 8 (15.3%), monosomy 5 (42.3%), 7 (34.6%) and 17 (11.5%). Molecular cytogenetic analysis revealed additional chromosomal abnormalities and / or additional chromosome breakpoints in 19 cases. Translocations were found: reciprocal in 22 cases, complicated in 13 cases. In karyotype of 23 patients we found chromosome anomalies 5 (76.9%), 7 (57.6%), 11 (34.6%) and 17 (46.1%). The deletion 5q was confirmed in five cases, the deletion of 7q in one case. True monosomy 7 is confirmed in one case. On the results of molecular cytogenetic techniques in all other cases with monosomy 5, 7, and 17 revealed fragments of these chromosomes involved in translocations were combined deletions of loci 5q31, 7q31 and 17p13. All marker chromosomes and chromosomes with additional material of unknown origin were recognized as complex translocations or derivative chromosomes with breakpoints in both arms. Combination of CCA and molecular cytogenetic techniques is necessary for the complete characterization of complex karyotypes in MDS and AML and for precise for characteristic of CK in MDS and AML and determination of exact breakpoints loci of potential oncogenes and tumor suppressor genes.

Values of random inbreeding and Barrai parameters are calculated and family landscape is analyzed for the two districts of North Ossetia-Alania (Ardonski and Pravoberejny). The size of the elementary population is more than 2 neighboring districts.