[Clinical and genetic features of APC- and MYH-mutation-negative patients with multiple polyposis of large bowel that tested by conventional methods].

The genealogic analysis, molecular and clinical investigations has been carried out in 19 probands with multiple colorectal adenomas (approximately 100 or more). Twelve of these patients (63.1%) were APC and MYH mutation-negative. Three (25%) probands have positive family history. The median of the disease manifestation age in APC-negative patients was intermediate between the median of the disease manifestation age in APC- and MYH-positive patients. Extraintestinal manifestations in the APC-negative probands are more rare than in APC-positive patients. A half of APC- and MYH-negative probands with multiple polyposis had colorectal cancer. APC- and MYH-negative patients formed a genetically heterogenous group.

[Genetic counseling and prognosis of the development of complications in patients with syndromes of hereditary polyposis of the colon].

Physical examinations, genealogic analysis and genetic consulting were done for 14 probands and their family members with most frequent syndromes of hereditary polyposis of large bowel during 4 generations. These syndromes include familial adenomatous polyposis, Gardner syndrome and Peutz-Jeghers syndrome. 46 relatives of probands with the same pathology were affected (from 1 to 9 of affected relatives within families). We have found the congenital abnormalities in 13 (28.2%) patients with syndromes of hereditary polyposis. 29 (63%) patients have malignant neoplasia. In families with high risk for hereditary polyposis we recommend regular medical and genetic consultation for early prophylaxis of illness and for genetic risk of possible complications in their members.

[The spectrum of cytogenetic chages in polyps of the large intestine with different histologic structure].

Cytogenetical study ofcolorectal polyps of different histological structures from 54 patients has been carried out. Domination of diploid karyotypes was shown. Abnormal karyotypes were found in 17 (31,5%) polyps: the most frequent anomalies were in adenoma while in hamartomatous polyps they were absent. The typical features of the karyotypes were numeric changes, such as additional copies of chromosomes 13, 7, 20, 18, 16 in some combinations. The polyps with high-grade dysplasia in all cases had abnormal karyotypes. Combinations of additional copies of chromosomes 13, 18, and 20 were observed in adenoma with dysplasia located near adenocarcinoma. We have studied the karyotype pecularities exactly in inflammatory polyps unlike the previous studies of ulcerative colitis, Cronh's disease and found 21,4% chromosomal anomalies.

[Karyotype studies of patients with a myelodysplastic syndrome]. / Doslidzhennia kariotypu u khvorykh z miielodysplastychnym syndromom.

Cytogenetic investigations, including the analysis of karyotype indicated by G-banding and FISH for Ph chromosome, were performed in the patients with myelodysplastic syndrome (MDS), classified according to FAB system. In RA we have not revealed any important karyotype abnormalities. In patients with RAEB we have detected monosomy 7, considered an unfavourable prognostic sign. There was found an unidentified marker chromosome in the patient with CMML. Diagnostic and prognostic value of karyotype investigation in MDS patients was discussed.

[The phenomenon of premature chromatid disjunction in the tissues of human embryos in vivo, in vitro and in pregnant women]. / Fenomen peredchasnoho rozkhodzheniia khromatyd u deiakykh tkanynakh embrioniv liudyny in vivo, in vitro ta u vahitnykh zhinok.

The study of cell karyotype features in human medical abortions and tissues of pregnant women indicated the phenomenon of premature chromatid (centromere) disjunction. The association of the frequency of premature chromatid disjunction with embryo sex and with the prolonged cell cultivation in vitro was revealed.

[The level of spontaneous genomic mutations in the somatic cells of human embryos]. / Riven' spontannykh henomnykh mutatsii v somatychnykh klitynakh embrioniv liudyny.

The study of the level of spontaneous genomic mutations in some human medical abortuses has demonstrated the intertissular variability in frequencies of polyploidies and endoreduplications in somatic cells of embryos. In fibroblasts they are encountered more frequently than in lymphoid cells. In the process of culturing in vitro the number of polypoidies and endoreduplications increases with passages. The frequency of polyploidies is significantly higher in human embryos than in pregnant women. There was no difference in the frequency of endoduplications between lymphocytes of pregnant women and embryos.

[Genetic monitoring in connection with the Chernobyl accident]. / Henetychnyi monitorinh v aspekti Chornobil's'koï katastrofy.

The complex investigation has been provided to control the genetically influenced processes after Chernobyl accident in some Ukrainian regions. Some dangerous trends in genetic populational status were revealed in the Ukrainian regions surrounding Chernobyl power plant allowing for the increasing number of congenital anomalies among the newborns and the spontaneous abortions as well as higher proportion in aberrations of chromosome type in human somatic and embryos cells, higher incidence of structural defects in embryonal bone system and higher, compared with control, proportion of children with intensive catabolism (R-protein homeostasis).