[Computer methods of analysis of chromosome contacts in the cell nucleus based on sequencing technology data]. / Komp'iuternye metody analiza khromosomnykh kontaktov v iadre kletki po dannym tekhnologii sekvenirovaniia.

The study spatial chromosome structure and chromosome folding in the interphase cell nucleus is an important challenge of world science. Detection of eukaryotic genome regions that physically interact with each other could be done by modern sequencing technologies. A basic method of chromosome folding by total sequencing of contacting DNA fragments is HI-C. Long-range chromosomal interactions play an important role in gene transcription and regulation. The study of chromosome interactions, 3D (three-dimensional) genome structure and its effect on gene transcription allows revealing fundamental biological processes from a viewpoint of structural regulation and are important for cancer research. The technique of chromatin immunoprecipitation and subsequent sequencing (ChIP-seq) make possible to determine binding sites of transcription factors that regulate expression of eukaryotic genes; genome transcription factors binding maps have been. The ChIA-PET technology allows exploring not only target protein binding sites, but also pairs of such sites on proximally located and interacting with each other chromosomes co-located in three-dimensional space of the cell nucleus. Here we discuss the principles of the construction of genomic maps and matrices of chromosome contacts according to ChIA-PET and Hi-C data that capture the chromosome conformation and overview existing software for 3D genome analysis including in house programs of gene location analysis in topological domains.

[Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing].

Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method. NGS data were collected for 38 biopsied embryos and compared with the data from array comparative genomic hybridization (array-CGH). The concordance between the NGS and array-CGH data was 94.8%. Two samples showed the karyotype 47,XXY by array-CGH and a normal karyotype by NGS. The discrepancies may be explained by loss of efficiency of array-CGH amplicon labeling.

[The proteomic profiling of blood serum of children with gastroesophageal reflux disease].

The mass-spectra of proteome of blood serum from healthy children and children with gastroesophageal reflux disease were received. The technology platform including direct proteome mass-spectrometer profiling after pre-fractional rectification using magnetic particles MB WCX was applied. The significant differences in mass-spectra were established manifesting in detection of more mass-spectrometer peaks and higher indicators of their intensity and area in group of healthy children. The study detected 39 particular peptides and low-molecular proteins predominantly intrinsic to healthy or ill children. It was established that two peptides with molecular mass 925 and 909 Da. are registered only in healthy patients and have no traces in group ofpatients with gastroesophageal reflux disease. The peptide 1564 Da is detected only in blood of children with gastroesophageal reflux disease and totally is absent in healthy children. The research data permitted to reveal specific patterns (signatures) of low-molecular proteins and peptides specific for blood serum of healthy children and patients with gastroesophageal reflux disease. The results testify the availability of singularities in metabolism of low-molecular proteins and can be used as a basis for development of minimally invasive mass-spectrometer system for its diagnostic.

[Psychotherapeutic correction of affective disorders in women participating in the program of assisted reproductive technologies].

To study peculiarities of mental disorders in women during treatment of sterility using current reproductive technologies (extracorporeal fertilization), 512 women, mean age 33,6+3,7 years and sterility duration 3,1+/-2,2 years (from 1 to 5 years) have been examined. A number of attempts to treat sterility varied from 1 to 10. In 266 (52%) patients, borderline mental disorders have been found. Anxiety and depressive disorders made up 31,2%. A significant role of stress in their manifestation and a negative influence of mental disorders on treatment outcome and possibility of remission has been revealed. The use of cognitive-behavioral psychotherapy resulted in the decrease of expression of mental disorders and adequately prepared patients to the treatment thus improving its results.

[Work of a district pediatric service for young children: analysis, problems, solutions]. / Rabota uchastkovoi pediatricheskoi sluzhby s det'mi rannego vozrasta: analiz, problemy, resheniia.

The study data are provided on the volume of curative and preventive care for 1740 infants at the outpatient department and at home, an analysis is made of the working time spent by a district pediatrician in two polyclinics of Nizhniy Novgorod. It has been shown that most of his time is devoted to sick children. Practically no time is spent on follow-up group of children pertaining to the populations "at risk". To improve preventive work among children of the first three years of life it is proposed to establish departments for young children in the territorial children's polyclinics. The organization of these departments makes it possible to improve the main qualitative indicators of child health.

Contribution to the investigation of the corn germ. Part II. Chemical composition of germ meal out of corn-oil cake.

The germ meal out of corn-oil cake contained up to 24.3% of protein, on the average. The main part of germ meal proteins was represented by the alkali-soluble fraction, up to 79.9%; the water-soluble proteins made up 7.3%, the salt-soluble--up to 4.6%, and alcohol-soluble--only up to 1%. With regard to the biological value, determined by fermentation hydrolysis, the total germ meal protein and its basic alkali-soluble fraction were not inferior to egg albumin and casein. The biological value of the test proteins, calculated by the aminoacid score, is nearing the biological value of an intact hen's egg and women's milk. The alkali-soluble fraction of germ meal protein has a high foam-forming ability and foam stability.