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1.
Georgian Med News ; (237): 99-102, 2014 Dec.
Article in Russian | MEDLINE | ID: mdl-25617110

ABSTRACT

There are presented preliminary results of the analysis of the materials of the register of children and adolescents suffering from Familial Mediterranean Fever in Georgia. The register was created by the "snow ball" method. For today it contains data on 138 patients, 56 (40.6%) males, 82 (59.4%) females, 86 (62.3%) less than 10 year old, 52 (37.7%) 10-18 year old. Almost in all patients the Armenian roots were revealed, both from maternal and paternal sides. Among the MEFV gene mutations M694V (mainly) and also V726A and M680I were the most common ones.


Subject(s)
Cytoskeletal Proteins/genetics , Ethnicity/genetics , Familial Mediterranean Fever/genetics , Adolescent , Armenia , Child , Familial Mediterranean Fever/epidemiology , Familial Mediterranean Fever/pathology , Female , Genotype , Georgia (Republic) , Heterozygote , Humans , Male , Mutation , Phenotype , Polymorphism, Single Nucleotide/genetics , Pyrin
2.
Vestn Ross Akad Med Nauk ; (1): 52-5, 1993.
Article in Russian | MEDLINE | ID: mdl-7682124

ABSTRACT

The paper deals with the mechanisms of anticlastogenesis protection of chromosomes in cultured human cells, which depend on many external and internal factors and may vary in genetic risk groups and in individuals. It also analyzes the role of repair and metabolic disturbances in the observed inter- and intragroup differences in the efficiency of protective action in model test systems. Results of comparative analysis of the efficiency of various interferons in the cultured cells from patients with bronchial asthma are presented. The paper first provides evidence for attenuated protective effects in the cultured lymphocytes from patients with xeroderma pigmentosum or chronic recurrent urticaria as compared to those from healthy donors. Prospects of and optimal methodological approaches to the study of anticlastogenesis in human cells are discussed.


Subject(s)
Antimutagenic Agents/pharmacology , Chromosomes, Human/drug effects , Mutagens/pharmacology , Cells, Cultured/drug effects , DNA Repair/drug effects , Humans , Interferons/pharmacology , Mutagenicity Tests , Sister Chromatid Exchange/drug effects
4.
Tsitologiia ; 30(12): 1491-4, 1988 Dec.
Article in Russian | MEDLINE | ID: mdl-3150139

ABSTRACT

The paper deals with the modifying effects of natural (leukocytic) and synthesized (recombinant) interferons on the number of cytogenetic injuries in the cultured lymphocytes of human peripheric blood after exposure to alkylating chemicals--thio-TEPA and fotrin. The analysis of chromosomal aberration levels is suggestive of a significant protective effect exerted by interferons. The addition of the recombinant interferon increased the number of sister chromatid exchanged frequency in mutagen treated variants. The application of the test system that involves two types of interferon made it possible to reveal differences in their cytogenetic effect during the protector-sensitive period of cultivation.


Subject(s)
Aziridines/pharmacology , Azirines/pharmacology , Chromosome Aberrations , Interferon Type I/pharmacology , Lymphocytes/drug effects , Mutagens/pharmacology , Thiotepa/pharmacology , Cells, Cultured , Drug Interactions , Humans , Lymphocytes/ultrastructure , Recombinant Proteins , Sister Chromatid Exchange/drug effects
5.
Tsitol Genet ; 21(2): 108-11, 1987.
Article in Russian | MEDLINE | ID: mdl-3590307

ABSTRACT

The levels of cytogenetic damages in cell cultures of chemical industry workers suffering from different forms of allergy have been investigated. The levels of chromosomal aberrations in cells of allergic patients are shown to reliably increase as against those of healthy donors. Studies on SCE levels have shown no such differences between the patients and donors. The SCE levels have been determined at different periods of BUdR addition and cultures fixation under the effect of environmental factors.


Subject(s)
Chromosome Aberrations , Hypersensitivity/genetics , Lymphocytes/ultrastructure , Occupational Diseases/genetics , Bromodeoxyuridine/pharmacology , Cells, Cultured , Chemical Industry , Humans , Lymphocytes/drug effects , Sister Chromatid Exchange/drug effects , USSR
7.
Genetika ; 14(12): 2205-8, 1978.
Article in Russian | MEDLINE | ID: mdl-217801

ABSTRACT

The influence of 2,3-aminopropylaminoethylthiophosphoric acid (2,3-APAETP) on the effect of the alkylating agent, thio TEPA, is investigated at different times of cultivation of human peripheral lymphocyte culture. The analysis of correlation equations shows that the results are described by the polynomes of 4-degree in variants treated with thioTEPA and 2,3-APAETP. The protector effect of 2,3-APAETP is determined not by the time from the culture stimulation but the time between the moment of culture treatment with 2,3-APAETP and thioTEPA and the moment of the fixation. It is shown that the points of maximal sensitivity of the cell cycle to thioTEPA and to the protective effect of 2,3-APAETP are similar.


Subject(s)
Lymphocytes/drug effects , Models, Biological , Mutation/drug effects , Amifostine/pharmacology , Cells, Cultured , Humans , Mathematics , Thiotepa/pharmacology , Time Factors
8.
Genetika ; 13(9): 1532-6, 1977.
Article in Russian | MEDLINE | ID: mdl-413764

ABSTRACT

Elimination of chromosome aberrations was studied in populations of dividing cells. For this purpose, on the basis of the corresponding theory of Carrano-Heddle assuming the Poisson distribution, a theory is advanced by the authors based on geometrical distribution, describing the distribution of lesions caused by the action of tioTEF. Parameters of elimination are obtained observed in case of addition of a protector, aminopropy-laminoethylthiophosphoric acid (APAETF) in a lymphocyte culture of human peripheral blood. It is shown that the addition of the protector diminishes the probability of the transmission of chromosome aberrations to daughter cells.


Subject(s)
Chromosome Deletion , Organothiophosphates/pharmacology , Organothiophosphorus Compounds/pharmacology , Radiation-Protective Agents/pharmacology , Thiotepa/antagonists & inhibitors , Cells, Cultured , Humans , Lymphocytes , Mathematics , Models, Biological
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