Cell mosaicism is found in biological systems much more often than clinically identified forms of the disease, in some cases, "erased forms” or "normal variants” are phenotypic manifestations of mosaicism. Some diseases, difficult for a clinical diagnosis, such as ataxia-telangiectasia, are based on cell mosaicism. This work is aimed to study DNA repair disorders in the cell lines of dermal fibroblasts isolated from skin biopsies of 5 patients with a clinically diagnosed ataxia-telangiectasia. In the obtained cell lines, the method of indirect immunofluorescence was used to determine the number, intensity, focus area pATMSer1981 and 53BP1, as well as the number of cells with the active form of the ATM kinase. The mosaic pattern of malfunctioning of the active form of the ATM kinase, phospho-ATM Ser1981, was revealed at different time intervals after exposure to ionizing radiation at a dose of 2 Gy. Significant differences were found between the number of ATMSer1981 and 53BP1 foci, the fluorescence intensity and their area in the cells of patients with ataxia-telangiectasia and healthy donors. The results of this work can be used in the diagnosis of ataxia-telangiec-tasia and determining the degree of impairment of the functional activity of the ATM gene.

Breast cancer is by far the most common cancer among women. The heterogeneous nature of the onset of this disease has already been proven and a search is underway for possible epigenetic mechanisms that affect the course of treatment. The indirect immunofluorescence method was used to study the fluorescence intensity of histones HP1γ, H3K9me3, H3K27me3, and histone deacetylases SIRT1 and SIRT6 in dermal fibroblasts of patients with breast cancer and patients at risk of developing cancer. The results of the study showed a significant difference in the level of fluorescence intensity of histones H3K9me3 and H3K27me3 in the cells of patients with breast cancer from the values in the cells of healthy donors. Also, the results of the study suggest that the heterochromatin protein HP1γ is a possible marker of the heterogeneity of breast cancer.

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Different programs are used for processing and analyzing of fluorescent images. However, some of these programs produce uncertain results due to their dependence on human factor. Here we made a comparative study of three programs used for fluorescent images analysis: IPLab, Fiji and DARFI. The programs were compared by the fluorescence intensity measurement quality and cell nucleus area detection. We also analyzed the quality of counting of foci in the cell nucleus, the determination of foci area and foci fluorescence intensity. Fluorescent images were obtained with laser microscope Zeiss Axiovert 200M after indirect immunofluorescence. The DNA repair study was performed on three cell lines from patients with ataxia-telangiectasia (AT). This disease is characterized by natural disruptions of the ATM kinase function. The study of the features of ATM kinase in DNA repair in patient cells is relevant not only in AT diagnostic, but also in the estimation of disease severity.