[Activities of a regional consultation service in medical genetics].
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Biomedical subjects
Publications and source records attributed to A M Polishchuk.
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The effect of X-irradiation on the dynamics of DNA synthesis during the S-period in bi- and mononucleated of regenerating rat liver was studied autoradiographically and microphotometrically. Rats were treated with X-rays at doses 3.84 X 10(-2), 15.48 X 10(-2), and 30.96 X 10(-2) Kl/kg 23 hours after a partial hepatectomy, and were sacrificed one hour after irradiation. In the control liver the rate of DNA synthesis was the lowest at the beginning of the S-period and the highest at the last quarter of this period in both mono- and binucleated cells. The irradiation results in the inhibition of DNA synthesis mainly at the end of the S-period depending on doses employed. This inhibition was the same in bi- and mononucleated cells. In addition, the increase of correlation of the 3H-thymidine incorporation rate and DNA content was found between nuclei of binucleated cells after irradiation.
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The growth properties of the FCS (calf foetus serum), obtained from the blood of died fetals have been investigated, the "Gibco" FCS and human serum IV being used as a control. It was shown, that FCS prepared in our laboratory provided the growth and karyotyping of amniotic cells in vitro. This FCS was equally effective for cell planting as was human serum IV and somewhat less effective than the "Gibco" FCS. The FCS obtained in our laboratory is not deficient, and cheap. It may be recommended for a wide use in prenatal detection of genetic disorders.
Change in radiosensitivity of chromosomes in the course of the S-period and the degree of the post-irradiation inhibition of DNA synthesis in cells of regenerating rat liver is studied. The frequency of radiation-induced chromosome aberrations at 150-600 r doses was established to vary during the S-period, being the highest at the early stage of this period and the lowest at its late stage. The dependence of the frequency of initiation of chromosome aberrations on the radiation dose is the most conspicuous for cells irradiated in the beginning of the S-period, whereas in the end of the S-period no such dependency is observed. Besides, it is found that the irradiation of animals at 150-600 r doses results in the inhibition of DNA synthesis mainly in the end of the S-period. As it is shown by the comparison of the yield of chromosome aberrations to the inhibition of DNA synthesis, the yield of chromosome aberrations decreases in case of DNA synthesis suppression during the S-period.
The proliferation of binucleated cells in the liver of young Wistar rats after partial (2/3) hepatectomy was studied by means of autoradiography and cytophotometry. The analysis of the kinetics of 3H-thymidine labelled cells has shown that both the bi- and mononucleated cells proceed through the mitotic cycle and enter mitosis simultaneously. The nuclei of 2nX2 cells enter prophase simultaneously but fuse during metaphase, so that the subsequent division results in the formation of mononucleated tetraploid cells.
The possibility of employing a mixed suspension of isolated liver cells from several rats for estimation of some quantitative characters commonly used in cytological investigations was studied. It is demonstrated that the disaggregation rate of liver in different animals varies slightly, and the mean values of the parametres studied (the proportion of dividing and binucleated cell) obtained from individual animals coincides well with those of the mixed suspension.
Radiosensitivity of chromosomes at S and G2 periods was studied by means of autoradiography technique in cells or regenerating liver of rats treated with X-rays at the doses of 150 and 300 r. The experiments were made so that the interval between irradiation and mitosis in S and G2 cells was equal. The results have shown that under the experimental conditions there are significant differences in the yield of chromosome aberrations between the labelled and intact cells. This withnesses for the existence of differences in radiosensitivity of chromosomes at different periods of mitotic cycle.
A possibility is studied of using phi-transformation for comparison of portions in homogenous totalities with intra-group variability. The phi value distribution is approximated satisfactorily by normal distribution, beginning from a certain amount of observation (n) depending on P, P being a portion of cells (individuals) with the character under study. On this basis, a method of statistical treatment and experiment planning is proposed.
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Out of 35 sterile males with impaired spermatogenesis two patients had "XX-male" syndrome and one patient had Y-chromosome deprived of a long arm. The three patients presented with similar clinical manifestations: short height, non manifest malformations, impaired spermatogenesis, sterility.
A patient with complete or almost complete absence of long Y-chromosome arm is described. Basic clinic characters are low height, absence of developmental anomalies, phychosexual identification, aspermia, sterility.