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1

Cryptic rearrangements of chromosome 12 in testicular germ cell tumors with or without the specific i(12p) marker

100%
Grygalewicz B., Pienkowska-Grela B., Woroniecka R.
Journal of Applied Genetics
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2000
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vol. 41
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issue 2
123-131
EN
Isochromosome of the short arm of chromosome 12 [i(12p)] is a highly specific chromosome abnormality of human testicular germ-cell tumors (TGCTs). It has been detected in 80% of cases. Other abnormalities that involved 12p-derived material have been observed in the remaining 20% of cases. In our study, cryptic rearrangements of the short arm of chromosome 12 were distinguished by fluorescence in situ hybridization (FISH) in eight cytogenetically abnormal TGCTs. This group included multiplicated material of 12p-arm in both i(12p)-positive and i(12p)-negative tumors. Such a common occurrence of chromosome 12 short arm rearrangements and overrepresentation of 12p-material confirms that yet unidentified gene(s) on 12p can play an important role in oncogenesis of TGCTs.
2

Analysis of chromosome aberrations, sister chromatid exchanges (SCE) and cell division kinetics in human lymphocytes exposed in vitro to new monophosphates of pyrimidine acyclonucleosides

80%
Ferenc T., Rutkowski M., Bratkowska W., Hubner H., Draminski M.
Journal of Applied Genetics
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1998
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vol. 39
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issue 1
113-127
EN
Five newly synthesised monophosphates of two pyrimidine acyclonucleoside series, namely 1-N-[(2'-hydroxy)ethoxymethyl] and 1-N-[(1',3'-dihydroxy)-2'-propoxymethyl] derivatives of 5- and 5,6-alkylated uracils were tested in vitro for chromosome aberrations and sister chromatid exchanges (SCE). Metaphase plates were obtained via microculture of human lymphocytes from heparinized peripheral blood. The compounds were tested in doses: 10, 20, 40, 80 and 150 ?g per mL of culture. The tested compounds induced mainly chromatid gaps, less frequently chromosome gaps. A low number of mitoses with chromatid and chromosome breaks, acentric fragments, dicentric chromosomes and exchange figures were also observed. The tested compounds in doses: 40, 80 and 150 ?g per mL, doubled or tripled the percentage of cells with chromatid gaps and chromosome gaps as compared to the control. The percentage of cells with aberrations (excluding gaps) induced by the tested compounds in all doses did not exceed 2%. The tested compounds induced a higher number of SCE per cell but less than double frequency as compared to the control. SCE frequencies and replication index (RI) values varied depending on the examined compounds. For the highest dose of the tested compounds (150 ? per mL) a significant decrease in RI values was observed for 1-N-[(2'-hydroxy)ethoxymethyl]-5,6-tetramethyleneuracil monophosphate and for 1-N-[(2'-hydroxy)ethoxymethyl] -5,6-dimethyluracil monophosphate. So far, the results have indicated potential clastogenicity of all the tested compounds except acycloguanosine monophosphate.
3

A study on influence of different signs of air-ions on sister-chromatid exchange frequency and chromosome aberrations in human peripheral blood lymphocytes

80%
Wiszniewski A., Kretowicz T.
|
EN
A cytogenetic analysis of peripheral blood lymphocytes of six persons (seven in analysis of chromosome aberrations (CA)) was carried out. The cell cultures were exposed to a constant concentration of positive or negative ions. The exposure time was established as 24 and 72 hours for ions of both signs. In the cultures exposed to positive ions and used for sister-chromatid exchange (SCE) analysis no metaphases were detected. An analysis of cultures after 72 hours of exposition to negative ions revealed an increase in the number of SCE and inhibition of cellular divisions as compared to the control. In CA analysis no differences in the number of aberrations were observed but in cultures exposed to positive ions dicentric chromosomes were detected. Therefore we conclude that the different signs of air-ions had not genotoxic effect.
4

Cytogenetic analysis and clinical significance of chromosome 7 aberrations in acute leukaemia

80%
Brozek I., Babinska M., Kardas I., Wozniak A., Balcerska A., Hellmann A., Limon J.
Journal of Applied Genetics
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2003
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vol. 44
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issue 3
401-412
EN
The analysis was performed on bone marrow cells derived from 96 patients with acute leukaemia (AL): 76 with acute myelogenous leukaemia (AML) and 20 with acute lymphoblastic leukaemia (ALL). Aberrations of chromosome 7 were revealed in 20 (21%) of 96 analysed cases: in 14 (18%) with AML and in six (30%) with ALL. Structural aberrations, present in 13 patients (eight with AML and five with ALL), were unbalanced and led to partial monosomy (12 cases) or trisomy (four cases) of chromosome 7. Twelve (86%) out of 14 AML and all the ALL patients with chromosome 7 aberrations had complex karyotypes in their bone marrow cells. Monosomy 7 and 7q losses were frequently observed in the AML group, whereas, in the ALL group, gains in 7q and losses in the short arms constituted most chromosome 7 aberrations. The occurrence of monosomy, or of losses in 7q, results in a worse response to induction therapy in AML patients. The complete remission (CR) rate was significantly lower in this group in comparison to the group of AML patients with a normal karyotype (p = 0.01) in bone marrow cells.
5

The genes of interferons and interferon-related factors: localization and relationships with chromosome aberrations in cancer

61%
Haus O.
Archivum Immunologiae et Therapiae Experimentalis
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2000
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vol. 48
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issue 2
95-100
EN
The paper presents a review of data on the localization of interferons (IFNs) and IFN system genes and their relationship with human diseases, mainly cancer. Genes of interferon system proteins are located at the sites of breakpoints of the structural chromosome aberrations in cancer. Thus, any of them are rearranged or translocated in various tumor types. As the activity of these genes plays a role in cancer development, their rearrangements may be one of the crucial points in the pathogenesis of some cancer types. Besides, they also take part in organism immunity against viral infections. Transfection experiments with IFN system genes have proved the influence of these genes on cancer behavior and may serve as a basis for clinical gene therapy. IFN-alpha and IFN-beta genes are located at 9p21-22, the site of frequent homozygotic deletions in cancer. Their loss sensitizes cells to the growth inhibitory actions of exogenous IFNs. The IFN-gamma gene, a representative of class II genes, is located at 12q24. 1. Transfection of class II IFNs genes to cancer cell lines causes cell proliferation arrest and augments the expression of HLA antigens, which may be clinically useful in stimulating the immune destruction of tumor cells. The interferon regulatory factor 1 (IRF-1) gene is located at 5q31, the site of common deletions in myelodysplastic syndromes (MDS) and secondary leukemias. The loss of heterozygosity of this gene was found in MDS, which proves that IRF-1 may be a tumor suppressor. A transfection of its gene causes neoplastic transformation arrest. The double-stranded RNA-activated protein kinase (PKR) gene is located at 2p21-22, a region which is frequently rearranged in leukemia. Transfection of a wild type PKR gene reverses neoplastic transformation caused by transfection of a mutated PKR gene, proving that PKR acts as a dominant negative cancer suppressor.
6

Chromosome aberrations, sister chromatid exchanges (SCE) and cell division kinetics in human lymphocytes exposed in vitro to purified trypsin inhibitor from Ascaris

61%
Blaszkowska J., Bratkowska W., Lopaczynska D., Strozynski H., Ferenc T.
Journal of Applied Genetics
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2004
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vol. 45
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issue 2
265-274
EN
The purified trypsin inhibitor (TI) isolated from nematode Ascaris suum was tested in vitro for chromosome aberrations and sister chromatid exchanges (SCE). TI was obtained from the musculocutaneous sac homogenate of adult Ascaris by the modified method of Rola and Pudles. The inhibitor was isolated and purified from the SF5 fraction of proteins by gel filtration on Sephadex G-50 and electrophoresis SDS-PAGE of the obtained fraction after molecular filtration. TI showed a high inhibitory activity against crystalline trypsin (18.8 Kassell?s units/mg of protein). Genotoxicity assessment of TI was carried out on metaphase plates received from peripheral blood lymphocyte macroculture (48 h-test of structural chromosome aberrations and 72 h-test of SCE), without exogenous metabolic activation. TI was tested in doses: 25, 50 and 100 mg per mL of culture. Kinetics of cell divisions was determined by the replication index (RI). We found that TI in vitro did not induce chromosome aberrations. It induced a higher number of SCE per cell but less than double frequency as compared to the control. The difference was significant only for the dose 50 mg/mL. For all doses, replication index (RI) values were significantly higher and mitotic index (MI) values were significantly lower than in the control. Thus the Ascaris trypsin inhibitor did not show any genotoxic properties but exhibited a mitostatic activity.
7

Effects of heavy metal pollution on genetic variation and cytological disturbances in the Pinus sylvestris L. population

61%
Prus-Glowacki W., Chudzinska E., Wojnicka-Poltorak A., Kozacki L., Fagiewicz K.
Journal of Applied Genetics
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2006
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vol. 47
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issue 2
99-108
EN
This isoenzymatic and cytogenetic study has shown significant differences in genetic composition between two groups of Pinus sylvestris trees: tolerant and sensitive to heavy metal pollution. Total and mean numbers of alleles and genotypes per locus were higher in the pollution-sensitive group of trees, but heterozygosity (Ho) was lower in this group. Fixation index (F) indicates that trees tolerant for pollution were in the Hardy-Weinberg equilibrium, while the sensitive group had a significant excess of homozygosity. Cytological analyses demonstrated numerous aberrations of chromosomes in meristematic root tissue of seedlings developed from seeds collected from trees in the polluted area. The aberrations included chromosome bridges and stickiness, laggards, retarded and forward chromosomes, and their fragments. The mitotic index was markedly lower in this group of seedlings, as compared to the control. Both isoenzymatic and cytological analyses showed a significant influence of heavy metal ions on the genetic structure of the Pinus sylvestris population.
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