[Genetic and clinical characteristics of 22q11.2 deletion syndrome].

In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.2 deletion syndrome (22q11.2DS). Sequencing of the TBX1 gene did not detect any mutations, except for some common neutral polymorphisms. For the first time in the Russian Federation, the diagnostic efficiency of 22q11.2DS appeared to be 32%, as a result of the application of a combination of genetic approaches for a large group of patients with suspected 22q11.2DS.

[Generation and application of dynamic standard reference intervals for analyzing results of comparative genomic hybridization].

The present work was aimed at generating the dynamic standard reference intervals (DSRI) and their application for chromosomal-aberration (CA) analysis. The evaluation of the generated DSRI was performed using the DNA samples from four patients with already known CA. High-resolution comparative genomic hybridization analysis (HR-CGH) allowed us to not only identify all of the CAs, that were not revealed by CGH, but also to detect the breakpoints and to determine the size of chromosomal imbalance.

Application of soil herbicides in gardening to improve fruit production.

The study considered the use of soil herbicides: Begin Turbo, KS; Dual Gold, KE; Euro-Lighting, VRK; Command, KE; Pivot, VK; Proponite, KE; Zenkor Ultra, KS and partially soil action: Demetra, KE, and Dialen Super, KS. We conducted a comparative assessment of the biological effectiveness of the studied herbicides against the main species of weeds present in the experimental plots, annual and perennial dicotyledonous, annual cereal weeds. The effect of soil herbicide treatments on the physiological state of plants of apple, pear, walnut, and black currant was studied. The effect of the use of the studied drugs on the yield of protected crops for three years was evaluated. The tests proved the applicability of soil herbicides in nursery, production gardens, as well as on seedlings with a closed root system. The tested products, despite the principle of their action - penetration into weeds through the soil, did not harm the protected crops, no negative effect on the growth of trees and shrubs was recorded. The study revealed no evidence that drugs had a negative impact on fruit and berry crop productivity. There are suggestions for improving the efficacy of using soil herbicides when planting fruit and berry crops.

Variation of the rate of pesticides decomposition used together in the process of agricultural production.

The use of tank mixtures of pesticides makes it possible to increase the efficiency of chemical treatment. The aim of the study was to establish the relationship between the joint use of pesticides and the rate of decomposition of active substances. The study was carried out on the crops of spring wheat, spring barley, peas, spring rapeseed, seed potato. Chemical treatments were carried out with insecticides and fungicides - the insecticide (imidacloprid and λ-cyhalothrin), suspension concentrate; the fungicide (propiconazole), emulsifiable concentrate; the insecticide (imidacloprid), soluble concentrate; the fungicide (copper sulfate tribasic), suspension concentrate. Determination of residual amounts of active substances of pesticides was carried out using methods of gas-liquid chromatography and high-performance liquid chromatography. The acceleration of decomposition of the active substance - imidacloprid on pea crops and spring rapeseed was caused by the combined use of the insecticide (imidacloprid) and the fungicide (propiconazole). The use of the fungicide (copper sulfate tribasic) in a tank mixture with the insecticide (imidacloprid and λ-cyhalothrin) on potatoes caused a slowdown in the decomposition of the active substances imidacloprid and λ-cyhalothrin. Also, there was a change in the level of intake by plant of active substances in the first three hours after spraying, when using tank mixtures, in comparison with the separate use of compounds. The data obtained on the change in the rate of decomposition of active substances of pesticides, when they are used together in mixtures, indicate the need to continue research in this area. In this regard, it is important to study the dynamics of the decomposition of individual active substances of pesticides in plant tissues when they are used in tank mixtures, it is also necessary to conduct research using compounds most commonly used in agricultural production.

Unique mosaic X/Y translocation/insertion in infant 45,X male.

We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments.

Identification of highly selective inhibitors of collagenase-1 from combinatorial libraries of diketopiperazines.

Thiol-containing diketopiperazines have been recently identified as novel heterocyclic inhibitors of matrix metalloproteinase (MMPs). The compounds described had similar activities against the MMPs collagenase-1 and gelatinase-B. An inhibitor that showed greater than 10-fold selectivity for collagenase-1 over gelatinase-B was desired. Previously published work with peptidyl hydroxamates and thiols indicated that while preparing gelatinase selective inhibitors was straightforward, there was not an obvious route to selective inhibitors of collagenase-1. Combinatorial libraries were prepared and evaluated for their ability to inhibit collagenase-1 and gelatinase-B substrate hydrolysis. A method for estimating the IC50 values of compounds generated by high-throughput parallel synthesis aided in the identification of compounds with the desired properties. We have found that thiol diketopiperazines derived from nitrophenylalanine are both potent and selective inhibitors of collagenase-1. In addition, we have demonstrated that combinatorial chemistry can be utilized to identify molecules with a desired selectivity profile without access to the traditional tools of rational drug design.

Characterization of a novel unique restriction-modification system from Yersinia enterocolitica O:8 1B.

Genetic manipulations with enteropathogenic Yersinia enterocolitica O:8 are complicated by the presence of an efficient PstI-like YenI restriction-modification (R-M) system. We have characterized the YenI R-M system in Y. enterocolitica O:8, biotype 1B. A 5039 bp DNA fragment of the pSAK2 recombinant plasmid carrying the yenI locus was used to determine the nucleotide sequence. DNA sequence analysis identified a single 2481 bp open reading frame (ORF) that encodes an 826 amino acid large polypeptide having an apparent molecular mass of 93 kDa. The N-terminal part of the YenI ORF has 45 and 40% identity to PstI and BsuI methyltransferases (MTases), respectively; while the C-terminal part depicts 55 and 45% identity to endonucleases (ENases) of both isoschyzomeric enzymes. The yenI gene was cloned into pT7-5 plasmid and has been shown to encode a single polypeptide of expected molecular mass. A specific recognition sequence, typical to the type II R-M systems and single peptide organization, typical to type IV R-M systems, make YenI unique among known restriction-modification systems. We have constructed a truncated recombinant variant of YenI enzyme, which conserved only MTase activity, and that can be applied to YenI methylation of the DNA to be transformed into Y. enterocolitica O:8 biotype 1B strains.

[Isolation and characteristics of antibodies against synthetic fragments of oncoproteins. I. Antiserum against the transforming protein p28sis of simian sarcoma virus]. / Poluchenie i kharakteristika antitel k sinteticheskim fragmentam onkobelkov. I. Antisyvorotka k transformiruiushchemu belku virusa sarkomy sherstistykh obez'ian p28sis.

To generate the antibodies to the transforming protein (p28sis) of simian sarcoma virus (SSV), the rabbits were immunized with peptides, corresponding to 200-206 and 201-210 sequences of p28sis, conjugated with protein carriers by different ways. The synthesis of peptides was carried out by the classical techniques in solution by using the benzyl type side protecting groups. Antibody titres against peptides were determined by ELISA and protein specificity by radioimmunoprecipitation and immunoblotting. It was shown that the antibodies to 201-210 peptide recognize p28sis and its dimer p56sis in marmoset and rat cells transformed by simian sarcoma virus.

[Tumor cell proteins, detected using antibodies to the S- and N-terminal fragments of the fos proto-oncogene product]. / Belki opukholevykh kletok, vyiavliaemye s pomoshch'iu antitel k S- i N-kontsevym fragmentam produkta protoonkogena fos.

Antibodies to c-fos oncoprotein were produced in rabbits by immunization with synthetic peptides, corresponding to the sequences 6-15 of N-end and 371-380 of C-end of c-fos oncoprotein. C-fos expression was tested with immunoprecipitation and immunoblotting in various transformed cell lines with antibodies to N- and C-decapeptides. It was shown that antibodies to C-terminal decapeptide revealed a c-fos gene product and also some fos-related antigens FRAs 36 kD, 46 kD, 75 kD and 90 kD in rat pheochromocytoma PC-12 cells and mouse carcinoma cell lines MAC-3 and LL. In some cell lines 46 kD FRA was expressed in the absence of p62 c-fos. Besides, different clones of the same cell line cultivated in identical conditions revealed differences in the 46 kD FRA expression. Antibodies to sequence 6-15 of N-end revealed only c-fos products and no FRAs were detected. Therefore FRAs have homology with the c-fos product in the C-terminal region and differ from it in the N-terminal region.

[Synthesis and immunogenic properties of peptides corresponding to the 200-210 site of the oncoprotein p28sis]. / Sintez i immunogennye svoistva peptidov uchastka 200-210 posledovatel'nosti onkobelka p28sis.

Synthesis of peptides corresponding to the 201-210 and 200-206 sequences of p28sis oncoprotein is reported. This region of the oncoprotein was chosen as a probable epitope basing on the analysis of its secondary structure and hydrophilicity profile. The synthesis was carried out by classical method in solution using side-protecting groups of the benzyl type. Conjugates of the peptides with protein carriers and polyclonal antibodies to the peptides were obtained. Antiserum against the 201-210 peptide conjugate is shown to be specific to p28sis oncoprotein and its p56sis dimer.

[A new case of trisomy 5p]. / Novyi sluchai 5p.

The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.

[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities: phenotype-karyotypic relations and genetic markers]. / Komp'iuternyi analiz v izuchenii mnozhestvennykh vrozhdennykh porokov razvitiia, sviazannykh s narusheniiami khromosom: fenokariotipicheskie vzaimootnosheniia i geneticheskie markery.

Computerized comparisons of phenotypes observed in different kinds of chromosomal imbalance and presented in the form of sparse matrices of traits were made to study the specificity of the indicated phenotypes, the possibility of differential diagnosis of the clinically similar forms, the presence of genetic markers, and the correspondence of the compared phenotypes to syndrome criteria. Stable enough, though variable trait associations characteristic of definite forms of imbalance of chromosomes 4, 5 and 9 were revealed, which were especially manifest when the respective trait frequency profiles were compared. Phenotypic distinction of 9p- and 11q-segmental monosomies was demonstrated and respective "phenotypic nuclei" were isolated. It has been shown that reliability of identification increases when the case to be analyzed is compared with a large enough number of primary descriptions. Analysis of 35 cases of 4p-segmental monosomies allowed the conclusion that Wolf-Hirschhorn syndrome is associated with deletion within 4 (p14-pter) region.

[Study of CATCH 22: genetic aspects]. / Geneticheskie aspekty izucheniia CATCH 22.

Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.

[Characteristics of the immunosuppressive activity of lymphoid organ cells in the process of sensitization with ram erythrocytes and exposure to antilymphocyte serum]. / Kharakteristika immunosupressivnoi aktivnosti kletok limfoidnykh organov v protsesse sensibilizatsii éritrotsitami barani i vozdeistviia antilimfotsitarnoi syvorotkoi.

In the adoptive transfer of cells obtained from the thymus, lymph nodes and the spleen to intact syngeneic animals the suppression of immune response was induced by lymph node cells. If the donors were previously sensitized, the cells of the thymus and lymph nodes showed suppressive activity in the adoptive transfer test. A single injection of antilymphocytic serum to the donors of lymphoid cells, previously sensitized with sheep red blood cells, enhanced the immunosuppressing action of thymocytes and lymph node cells.

[Repeatability and heredity in assessing the genotype of breeding bulls]. / Povtoriuvanist' i spadkovist' otsinky henotypu pleminnykh buhaïv.

Phenotypic correlations between the breeding value of bulls and the level of lactation of their mothers as well as the results of the assessment of their fathers were calculated on the basis of the data of tests and assessments of 1687 diary bulls for quality of their progeny. A relatively weak correlation was detected for the paternal side of the pedigree. This was due to a low efficiency of genotype assessments. A functional relationship between the repetition value and the number of daughters and the number of herds, in which they were used, was determined.

[The lymphoid system as the basis of body resistance and its role in the humoral regulation of reactivity and resistance by lymphopeptides]. / Limfoidnaia sistema kak osanova rezistentnosti organizma i ee rol' v gumoral'noi reguliatsii limfopeptidami reaktivnosti i rezistentnosti.

The priority function of the lymphoid system is considered not only as the basis for immunological reaction but also as a system which synthesizes different substances of peptide and nucleotide nature that equally determines the specific and unspecific resistance of the body to the action of antigenic and non-antigenic factors of the environment. The lymphoid system role in fatigue, old age is stressed a leading mechanism in these processes on the basis of low-molecular lymphopeptides synthetized by this system and providing the general resistance of the body and specific function of the morphofunctional systems.

[Agenesis of the corpus callosum]. / Ageneziia mozolistogo tela.

Clinical follow-up of 9 patients with agenesis of the corpus callosum is analysed. It is established that the pleomorphism of the clinical manifestations in agenesis of the corpus callosum is determined by the concomitant cerebral lesions. Pneumoencephalography should be considered the method of choice in the diagnosis of agenesis of the corpus callosum because it demonstrates the changes in the ventricular system characteristic of this anomaly and the changes in the cerebrospinal fluid channels attendant to it. A decrease in the distance between the inferior sagittal sinus and the internal cerebral vein and in the distance between the pericallosum artery and the internal cerebral vein are pathognomonic angiographic signs. No pathognomonic changes in the bioelectric activity of the brain in agenesis of the corpus callosum were detected.

[Changes in the low-molecular fractions of physiologically active substances in the tissues of the spleen, lymph nodes and blood serum of rats exposed to x-ray irradiation]. / Izmeneniia nizkomolekuliarnykh fraktsii fiziologicheski aktivnykh veshchestv v tkaniakh selezenki, limfaticheskikh uzlov i syvorotke krovi krys pri rentgenovskom obluchenii.

Acute radiation sickness (grades II-III) was induced in experiments on 135 adult rats by single total X-ray radiation (185.7 mCal/kg). A gel-chromatographic study showed that 40 days after irradiation the surviving animals showed a 2 times increase of substances with a molecular mass of 600-850 daltons in the homogenate of lymphoid organs. This possibly evidences their participation in restorative processes.

[Our experience with 2220 stereotaxic operations]. / Nash opyt 2220 stereotaksicheskikh operatsii.

The article deals with the results of 2,220 stereotaxic operations carried out on 1,812 patients with various diseases of the central nervous system: 1,286 operations in parkinsonism, 439 in cerebral infantile paralysis, 150 in torsion dystonia (dystonia musculorum deformans), etc. The best results were produced in parkinsonism and dystonia musculorum deformans.