[Correlation of polymorphism of heterochromatin segments with hybridization on chromosome preparations of various cloned repeated human DNA sequences]. / O korreliatsii polimorfizma geterokhromaticheskikh segmentov s gibridizatsiei na khromosomnykh preparatakh nekotorykh klonirovannykh povtoriaiushchikhsia posledovatel'nostei DNK cheloveka.

Comparison between results of measurements of heterochromatic regions detected by differential C and DA/DAP1 staining and the hybridization data of two cloned repeated human DNA sequences one alphoid (pH S05) and the other the satellite DNA III (pPD18) on chromosome preparations was made. A positive correlation of heterochromatic region sizes on several chromosomes and the amount of label over them detected after hybridization with both alphoid and satellite sequences was shown, the correlation with the latter being more pronounced.

[Quantitative analysis of chromosomal localization of two human cloned satellite DNA III sequences by in situ hybridization]. / Kolichestvennyi analiz khromosomnoi lokalizatsii dvukh klonirovannykh posledovatel'nostei satellitnoi DNK III cheloveka s pomoshch'iu metoda gibridizatsii in situ.

Chromosomal location of two cloned human satellite DNA III sequences pPD9 and pPD18 has been studied in 30 individuals by in situ hybridization. Pericentromeric localization of the DNA subsets studied was found in practically all chromosomes of the set. The majority of label was observed over the pericentromeric region of chromosome 9 (38.3% for pPD18 clone and 26.2% for pPD9), the short arm of chromosome 15 (17.2% - the pPD9 clone and 10.6% - the pPD18 clone) and the distal part of the long arm of Y chromosome (19.6% - the pPD9 clone and 15.4% - the pPD18 clone). Besides significant interchromosomal differences, moderately pronounced interindividual differences were also detected in the number of grains over the regular sites of the chromosomal location. Pretreatment of slides with DA/DAPI induced differences in the results of quantitative analysis is described.

[Use of a cloned alphoid repetitive sequence of human DNA in studying the polymorphism of heterochromatin regions of chromosomes]. / Ispol'zovanie klonirovannoi al'foidnoi povtoriaiushcheisia posledovatel'nosti DNK cheloveka v izuchenii polimorfizma geterokhromatinovykh raionov khromosom.

Chromosomal location of the cloned fragment pHS05 of alphoid DNA from the collection of human PstI restricts has been studied in 38 individuals by in situ hybridization. Pericentromeric localization of the DNA fraction studied was found in practically all chromosomes of the set. Significant interchromosomal and poorly expressed interindividual differences were detected in a number of the copies of the sequence class investigated. The majority of the label (approx. 27%) was observed over the pericentromeric region of chromosome 3. No relationship was discovered between hybridization results and the pattern of Q-polymorphism.

[A method of analyzing the chromosome localization of repetitive nucleotide sequences by using hybridization in situ]. / K metodike analiza khromosomnoi lokalizatsii povtoriaiushchikhsia nukleotidnykh posledovatel'nostei s pomoshch'iu gibridizatsii in situ.

To increase precision in the quantitative analysis of chromosomal distribution of repeated DNA sequences detected by in situ hybridization, a number of factors important in studies of the molecular basis of chromosome polymorphism should be considered. While analysing results of hybridization, one should only use the number of grains over the sites of their regular localization, instead of those over the whole chromosome. It is also evident that to decrease variability conditioned by differences in the labelling degree of separate cells, the relative numbers of labelled grains over chromosomes should be used in the analysis and not the absolute ones. Data from those cells ought to be only included in the analysis, in which the labelling degree is sufficient to show all localization sites of the repeated sequences studied, i.e. cells should be used with comparatively constant relative numbers of labelled grains over all their regular localization sites.

[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.

[Q-band chromosome polymorphism in couples with reproductive disorders]. / Polimorfizm Q-segmentov khromosom u supruzheskikh par s narusheniiami reproduktivnoi funktsii.

A comparative analysis of Q-band polymorphisms was conducted in phenotypically normal individuals and couples with repeated spontaneous abortions. In the group of pathology reduction of the following phenomena was found: frequencies of brilliant fluorescence in bands 4p11q11, 14p11, 14p13, 15p11, 21p13; the mean numbers of the brilliant fluorescent segments per cell per individual; frequencies of extremely large ("marker") Q-bands. All these findings coincided with our earlier published data on reduction of the C-heterochromatin amount in the same group of pathology.

[Polymorphism of the chromosome Q-segments in phenotypically healthy persons of the native population of the Latvian SSR]. / Polimorfizm Q-segmentov khromosom u fenotipicheski zdorovykh lits korennogo naseleniia Latviiskoi SSR.

Chromosomes of 140 healthy adult individuals from the Latvian population were investigated by the fluorescence method. Data on the polymorphism patterns are presented for chromosomes 3, 4, 13, 14, 15, 21, 22 and Y. No differences were revealed between sexes in the frequency of highly fluorescent segments of autosomes. The frequencies of homozygotes and heterozygotes for certain chromosome segments did not correspond to the Hardy-Weinberg distribution.

[Quantitative analysis of the polymorphism of the C-bands of chromosomes 1, 9, 16 and Y in Latvians]. / Kolichestvennyi analiz polimorfizma C-segmentov khromosom 1, 9, 16 i Y u latyshei.

A quantitative analysis of the C-band polymorphism in chromosomes 1, 9, 16 and Y was made in 50 phenotypically normal individuals (25 males and 25 females). At an average level of the chromosome spiralization (the mean chromosome size is 2-7 micrometers) mean C-band lengths of chromosomes 1, 9, 16 and Y obtained in the course of the study are 1.09, 0.94, 0.82 and 0.80 micrometers, respectively. A comparative analysis of the mean C-band lengths in chromosomes 1, 9, 16 in the male and female groups has revealed no sex differences. The highest variability of the C-band size is found for chromosome 1 and the lowest--for chromosomes 16 and Y.

[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.