[Functional activity of the nucleolar organizer in the interphase granulocytic nuclei in chronic myeloid leukemia]. / Funktsional'naia aktivnost' iadryshkovogo organizatora v interfaznnykh iadrakh granulotsitov pri khronicheskom mieloleikoze.

Silver staining was used to investigate transcription activity of ribosomal genes of leukemia granulocytes in the interphase in 32 patients with PA-positive chronic myeloid leukemia (CML) and 26 healthy subjects. Visual calculation of nucleolar argentophilic granules (AG) and measurements of AG total area on cytoanalyzer Morphoquant were made. Introduction of a specially devised computer program and combination of silver staining with autoradiography in vitro (3H-thymidine) made it possible to quantify the activity of the ribosome genes in each phase of the mitotic cycle (G0/1, S, G2). Moreover, a significant difference was established in AgNO3 staining capacity of mature granulocyte nuclei in normal condition and in CML.

[Interconnection of the functional activity of nucleolar organizer regions of chromosomes with human reproductive pathologies]. / Vzaimosviaz' funktsional'noi aktivnosti iadryshkoobrazuiushchikh raionov khromosom s reproduktivnoi patologiei cheloveka.

Comparative analysis of transcriptional activity of human nucleolus organizer regions (NOR) of the chromosomes in the group of the control phenotypically healthy individuals (I) and in the spouses with repeated spontaneous abortions (II) was conducted in an attempt to verify the hypothesis: whether elimination of zygotes having received a very large or very small number of the copies of active rRNA genes may serve as a factor decreasing the fecundity of some spouses? It has been shown that the groups I and II have no differences in total activity of 10 NOR (Ag staining, rating estimation). At the same time, the II group is characterized by higher, in comparison with the I, heterogeneity of Ag-NOR variants in homologues of 5 nucleolus-organizing chromosomes. As a result, in the individuals of the group II the gametes are formed which are more heterogenous than in the group I for the Ag-NOR pattern variants. The imitation computer experiments revealed that in the group II elimination of zygotes as a consequence of inherited Ag-NOR variants combination should occur more frequently (in 22.2% cases) than in the group I (15.9%), p < 0.05. Thus, the hypothesis under test was substantiated in the present study.

[Existence of a negative correlation in the level of satellite DNA III and the number of rRNA gene repeats, localized on the short arms of human acrocentric chromosomes]. / Sushchestvovanie otritsatel'noi korreliatsii v soderzhanii satellitnoi DNK III i chislov povtorov rRNK genov, lokalizovannykh v korotkikh plechakh akrotsentricheskikh khromosom cheloveka.

Relationship between the data on hybridization of the cloned sequences of the satellite DNA III located in the short arm of the acrocentric chromosomes and the hybridization data on the cloned fragments of 28S and 18S rRNA genes, as well as the transcriptional activity of human nucleolus organizer was studied. Negative correlation between the content of the satellite DNA III and the number or expression of rRNA genes was shown.

[Study of polymorphism in human rRNA gene clusters. Population and familial analysis of basic types of RFLP]. / Issledovanie polimorfizma v predelakh klaster genov rRNK cheloveka. populiatsionnyi i semeinyi analiz osnovnykh tipov PDRF.

The frequency and average amount of copy number per genome were defined for standard and a number of new variants of BamHI 5'-NTS RFLP from populations of Moscow, Riga and individuals with Down syndrome. It was demonstrated that the populations studied differ neither in population frequency nor in the average amount of copy number of the variants. New variants were detected in the EcoRI 3'-NTS RFLP system and their amplification, as well as discordance among MZ twins. Possible target for methylation in the HindII site of 3' end of 28S rRNA gene was revealed. Analysis of data obtained demonstrated inefficiency of using the RFLP systems in systematic mapping of NOR-chromosomes. Our data also suggested a possible role of amplification of one copy repeated unit rRNA genes in their evolution.

[Quantitative analysis of C-segments of chromosomes 1, 9, 16 and Y in couples with reproductive disorders]. / Kolichestvennyi analiz C-segmentov khromosom 1, 9, 16 i Y u supruzheskikh par s narusheniiami reproduktivnoi funktsii.

A comparative analysis of structural variability of C-bands on chromosomes 1, 9, 16 and Y was conducted in 50 phenotypically normal adults and 25 couples with repeated spontaneous abortions. Reduction of both the total amount of heterochromatin in the cell and the lengths of these regions on chromosomes 1, 9, and 16 is revealed in the group of pathology. No differences were found in the lengths of C-bands on Y chromosome.

[Cytogenetic study of married couples with recurrent spontaneous abortions]. / Tsitogeneticheskoe issledovanie supruzheskikh par s povtornymi spontannymi abortami.

A cytogenetic study was carried out in the chromosome set for 202 couples with recurrent spontaneous abortions of unknown genesis. Anomalies in the chromosome set were observed in 2.5% of cases.

[Chromosome study in primary amenorrhea]. / Issledovanie khromosom pri pervichnoi amenoree.

Primary amenorrhea was studied in 64 women. Chromosome abnormalities or karyotype-phenotype non-conformity were found in 31 of 64 patients (48.4%). The following types of chromosomal pathology were found out: 7 cases with 45,X constitution; 3--45,X/46,XX; 1--45,X/46,XY; 1--45,X/46. XYq-; 1--46,XXq-; 1--45,X/46,XXq-; 2--46,X,i(qX); 2--45,x/46,X,i(qX); 1--45,X/46,XX, +mar. In 12 cases phenotypic women had a 46,XY karyotype.