[Karyotyping results of spontaneous abortions and miscarriages specimens obtained after using assisted reproductive technologies].

The results of molecular cytogenetic study of spontaneous abortions and material non progressive pregnancies in the first trimester in 43 couples who were treated with various methods of ART are presented in this report. Chromosomal pathology (CP) was present in 28 (65 %) samples of chorionic villi. A comparative analysis of the frequency and types of CPs in groups, composed according to the pathological states in the semen of men was done. The recommendations to improve the efficiency of ART were developed based on the data.

[Genetic factors of male infertility. The role of complex examination in the cases of different spermatogenesis disorders].

Data about some male infertility genetic factors is presented and methods that can be used for its diagnostics are considered. Among genetic factors changes of the genetic apparatus at gene level (mutations), chromosome level (chromosomal aberrations), and total DNA (chromatin dispersion, DNA fragmentation) are pointed out. Beside standard cytogenetic diagnostic techniques, spermogram and DNA diagnostics, there are a number of molecular-cytogenetic methods (FISH, TUNEL, SCSA, SCGE, SCD). Profound studying of infertile men sperm at several levels of the genetic material organization will allow to estimate the informativity of each method separately and in a complex, and also to develop optimal algorithm for diagnostics performance with the aim of selection of the most effective treatment for male infertility.

[The most frequent chromosomal abnormalities in karyotypes of patients with reproductive problems].

Results of cytogenetic and molecular-cytogenetic inspection of 210 matrimonial pairs with the problems of reproduction are presented. Different types of chromosomal aberrations have been detected in the karyotypes of the patients in 46 (10.95%) cases. Such structural chromosomal aberrations as pericentric inversions, Robertsonian translocations, balanced reciprocal translocations, and marker chromosomes as well prevailed the numerical chromosomal aberrations (89.13% and 10.87% cases accordingly). In the general group of the inspected patients there were 19 cases (4.52%) characterized by the low level of X and Y chromosome mosaicism. The authors suppose that the patients with the exposed chromosomal abnormalities need the differentiated approach at their treatment.

[Prenatally identified case of mosaicism of chromosome 16 trisomy].

We present the prenatally identified case of mosaicism of chromosome 16 trisomy. A patient with the pregnancy complicated in the first trimester by the threat of breaking was refered to the high risk group according to the results of the screening program. The ultrasonic research revealed a number of phenotypical pathologies in 19-weeks-old fetus such as congenital heart disease (ventricular septal defect), hyperechoic bowel, single umbilical artery and some other ones. Cytogenetical and FISH analyses of the placental villi revealed karyotype with chromosome 16 trisomy. The further research of amniotic fluid cells revealed the karyotype of fetus as mos47,XX,+16 / 46,XX. The pathologoanatomic research of the abortus has verified the multiple congenital malformations.

[Molecular-cytogenetic study of the aborted fetuses in women with reproductive function disorders].

It is known that the frequency of chromosomal abnormalities among spontaneous miscarriages of the first trimester of pregnancy makes 50-60%. Research of karyotypes of chorionic villus cells of miscarriages has been conducted by combining the standard cytogenetic method and the FISH analysis on interphase nuclei of centromeric specific DNA samples by the tests to the chromosomes 13/21, 14/22, 15, 16, 18, X, Y. The described complex approach can be successfully applied for effective identification ofchromosomal abnormalities in the material of spontaneous miscarriages. The results specify the necessity of careful study of genomes of matrimonial pairs with the usual unmaturing in anamnesis and especially before treatment by IVF methods.

[The role of ultrasonic and cytogenetic markers in prenatal diagnostics].

As a result of leadthrough 288 invasive manipulations with the use of cytogenetic and molecular-cytogenetic methods we have found 16 different disorders in the fetus karyotype of the expectant mothers of high risk groups. For the most part the Down syndrome and the Shereshevsky-Therner syndrome were detected among aneuploidies. The maximal amount of anomalous karyotypes (28.6%) was detected at the pregnants with congenital malformations in the fetus. The proofs of the increased frequencies of some chromosome homologue heteromorphisms were got in the group of patients where the so-called "soft markers" of aneuploidies or their combination with biochemical markers were used as supposition for the invasive procedure. The echographic screening proved to be the most informative method among the different approaches to the formation of the groups of the high genetic risk.

[A case of deletion of the short arm of the chromosome 21 (21p-) (christchurch chromosome) discovered prenatally:clinical and cytogenetic data]. / Opisanie sluchaia deletsii korotkogo plecha khromosomy 21 (21p-) (christchurch chromosome), vyiavlennogo prenatal'no: klinicheskie i tsitogeneticheskie dannye.

Results of cytogenetic research of placental villi and amniotic fluid cells culture of the 22-weeks-old fetus with multiple congenital malformations (MCM) are presented. The absence of the short arm in one of the homologue of the chromosome 21 was revealed. Cytogenetic analysis of the fetus father's blood lymphocytes determined the similar chromosome. Further research of the father's karyotype made by FISH-method using specific DNA samples had discovered the absence of subtelomeric parts in the short arm of the chromosome 21 that might be considered as a deletion. It was suggested that the effect of position and interaction of genes could play a key role in appearing of MCM in the fetus in the case when the 21p-chromosome was transferred to it from the healthy parents.

[Uptake of testosterone by tissues of human fetal prostatic rudiments]. / Sviazyvanie testosterona tkaniami zakladki predstatel'noi zhelezy plodov cheloveka.

The common and specific uptake of 3H-testosterone (3H-T) by tissues of urogenital sinus (UGS) and bladder (BL) in human 10-12 weeks fetuses was studied. The values of common and specific 3H-T uptake in UGS were significantly higher than those in BL. A high specific uptake of labeled hormone was also detected in UGS mesenchyme separated from epithelium. The authors did not reveal any sexual dimorphism of 3H-T uptake by UGS tissues.

[Local expression of cytokeratins 8, 17 and 18 in the mesenchyme and smooth muscles in the early stages of human organogenesis]. / Lokal'naia ékspressiia tsitokeratinov 8, 17 i 18 v mezenkhime i gladkikh myshtsakh na rannikh étapakh organogeneza cheloveka.

Expression of cytokeratins 7, 8, 17, 18 in human embryos and fetuses of 6.5-13 weeks was studied using light and electron immunocytochemistry and immunoelectroblotting with the monoclonal antibodies. Cytokeratins 8 and 18 were expressed in 6.5-8 week old embryos not only in epithelium but also in mesenchyme of allantois, urogenital sinus, Wolffian and Mullerian ducts, mesentery, urinary bladder and certain regions of colon, rectum and atrium cordis walls. Furthermore, starting from the 10th week smooth-muscle cells of ring layer in caudal part of rectum bound antibodies against cytokeratin 17 in addition to those against cytokeratins 8 and 18. Corresponding mesenchymal and smooth-muscle cells of adult individuals did not react with either of them. Cytokeratins were still synthesized when mesenchymal cells of embryonic intestine wall were cultivated in vitro. Intermediate filaments of these cells contain cytokeratins 8 and 18, as demonstrated by electron immunocytochemistry and immunoelectroblotting. Thus, the expression of cytokeratins is not restricted to adult and embryonic epithelial tissues but is also characteristic of mesenchyme and smooth muscle differentiation in human embryos and fetuses.

[Marker proteins of the differentiation of cultured human prostatic epithelial cells]. / Markernye belki differentsirovki kul'tiviruemykh épitelial'nykh kletok predstatel'noi zhelezy cheloveka.

The typical differences in the protein spectrum of cultured epithelial cells of the human definitive prostate and its premordium were revealed by the electrophoresis and electrofocusing procedure. Marker proteins typical of the cultured prostate epithelial cells, which underwent differentiation, have molecular weight of 70000-74000 Dalton and their isoelectric points are 6.6; 7; 7.5.

Electrophoretic marker of differentiated human prostate secretory epithelial cells.

Electrophoretic analysis of primordial human prostate epithelium, glandular secretory epithelium of prostate and other human tissues revealed a marker characteristic of differentiated secretory prostate cells. Being probably neither protein nor lipid in chemical nature, this marker reacted in a peculiar way with Amido Black 10B. The marker was shown to be present in prostatic secretory substance.