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Biomedical subjects

M Kucerová

Publications and source records attributed to M Kucerová.

17 recordsLinked to original sources

Meiotic and radiation studies in four oligochiasmatic men.

The meiotic findings in four oligochiasmatic males are described. Radiation studies on the somatic cells of three of them failed to provide evidence for a reduced facility to repair DNA which might also have accounted for the observed failure of chiasma formation at meiosis. The data support the idea that the 'low chiasma count' condition in sterile men is of mixed aetiology.

Adult

The Prader-Willi syndrome with a 15/3 translocation.

A de novo translocation of 15q to 3p with complete monosomy of 15p and partial monosomy of 15q was detected by trypsin banding on peripheral lymphocytes of a 5-year-old boy with Prader-Willi syndrome (severe mental retardation, dyslalia, cryptorchidism, and muscular hypotonia). The pathogenic role of chromosome 15 abnormalities in the aetiology of this syndrome is discussed.

Child, Preschool

Mutagenic effect of epichlorohydrin. II. Analysis of chromosomal aberrations in lymphocytes of persons occupationally exposed to epichlorohydrin.

A prospective cytogenetic study was conducted in 35 workers occupationally exposed to epichlorohydrin (ECHH). Blood samples for cytogenetic analysis were collected before the exposure (to serve as a control) and after the first and second years of ECHH exposure; the cultivation time was 56--58 h. Four slides from each worker were prepared, coded and two of them separately analysed in two collaborating cytogenetic laboratories. About 50 cells were analysed on each slide, giving a total 16,674 scored cells. The percentage of cells with chromosomal aberrations in blood samples of workers was 1.37 before exposure, 1.91 after the first year and 2.69 after the second year of exposure. The difference between percentages of aberrant cells before and after two years of occupational exposure was highly significant (P less than 0.0001). There was particularly observed an increase of chromatid and chomosomal breaks after exposure, simultaneously with an increased number of breaks per 100 cells. These results are concordant with previously reported cytogenetic data found in experiments with mammals and human cells in vitro.

Adult

Cytogenetic analysis of human chromosomes and its value for the estimation of genetic risk.

A short review of present-day contradictory opinions on the usefulness of human chromosomal analysis in the system of chemical mutagen testing is illustrated by examples of the results achieved by both conventional and banding techniques. The results include exposures of human chromosomes to ECHH and TEPA in vitro, and to ECHH, vinyl chloride and Imuran in vivo. Exposures of human lymphocytes in vitro to the chemical to be tested for mutagenicity are recommended as one of the tests to be included in the system of mutagenicity testing, parallel with all other tests on mammalian and submammalian levels. The testing of human chromosomes of people exposed to chemicals in vivo is considered essential.

Chromosomes

Mutagenic effect of epichlorohydrin. I. Testing on human lymphocytes in vitro in comparison with TEPA.

The mutagenic effect of the monofunctional alkylating agent epichlorohydrin was tested on human lymphocytes in vitro and compared with the mutagenic effect of the polyfunctional alkylating agent TEPA. The same descending concentrations were used for both mutagens: 10(-4), 10(-5), 10(-6), 10(-7), 10(-8), 10(-9), 10(-10) and 10(-11) M. Similar types of chromosomal aberration were found, but the effect of ECHH was 4-5 times lower than that of TEPA. ECHH was found to be a mild mutagen. Different timing of mutagen application was used in the course of 56 h of cultivation of lymphocytes: 1 h before cultivation, one hour between the 24th and 25th h of cultivation and 24 h before the end of cultivation. From the results presented we conclude that the application of the chemical for the last 24 h of human lymphocyte cultivation should be recommended for routine mutagenicity testing.

Azirines

Banding technique used for the detection of chromosomal aberrations induced by radiation and alkylating agents TEPA and epichlorohydrin.

Blood samples from two healthy donors were exposed, (1) to 200 R of X-rays in G0 and G1S phases of the cell cycle, and (2) to epichlorohydrin 10(-6) M and TEPA 10(-4) M in G0 and/or in G1S and G2 phases. Part of the cells was processed for chromosome studies conventionally and the other part by the trypsinization banding technique. Detailed chromosomal analysis showed that, after irradiation, 38.2% of aberrations in G0 and 18.7% in G1S phases escaped cytogenetic detection when the conventional technique was used. After exposures to TEPA and ECHH, 10.9% of aberrations were undectable in G0 and 3.3% in G1S and G2 phases. The distribution of chromosome breaks was non-random both after irradiation and after exposure to alkylating agents. However, it differed according to the mutagen used. Some chromosomal segments were broken significantly more frequently than the others (e.g. 9q12), some were resistant to breakage (e.g. the whole Y chromsome). The segments represented by G-negative bands were more fragile than the G-positive and G-variable segments.

Chromosome Aberrations

Influence of diagnostic roentgen doses on human chromosomes and influence of age on the aberration yield.

Urography was performed in 2 groups of patients (one comprising patients aged 7-18 years, the other patients aged 8-32 months) under constant conditions. The skin dose ranged between 1 and 4 R. Blood samples were taken before, immediately after and 24 hours after the irradiation. A significantly increased number of aberrant cells was found only in the blood samples taken 24 hours after irradiation. No age-dependent influence on the radiation sensitivity in vivo was found.

Adolescent