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Development and validation of a novel method for generating locus-specific DNA probes for the diagnosis of chromosomal aberrations
https://doi.org/10.25557/2073-7998.2025.11.63-66
Abstract
Introduction. Development of a domestic panel of DNA probes for detection of the most frequent chromosomal aberrations is a critical task to ensure independent and high quality molecular cytogenetic diagnostics in the Russian Federation.
Objective. To develop a domestic panel of DNA probes for detection of chromosomal aberrations.
Methods. The method of obtaining a panel of DNA probes for the detection of chromosomal aberrations included the development of probes using long-range PCR with the subsequent formation of DNA libraries for the diagnosed regions of the human genome and control loci.
Results. The technology for obtaining DNA probes for FISH diagnostics and a panel of DNA probes from domestically produced components were developed.
Supporting agencies: The study was carried out with the support of the State Assignment No. 122112800024-7
About the Authors
M. A. Zhilkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. S. Zuev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
T. S. Babay
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. A. Podus
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
E. A. Sazhenova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
E. N. Tolmacheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
D. G. Shevtsov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
V. V. Demeneva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
S. A. Vasilyev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
References
1. Hu L., Ru K., Zhang L., et al. Fluorescence in situ hybridization (FISH): an increasingly demanded tool for biomarker research and personalized medicine. Biomark Res. 2014;2(3). doi: 10.1186/2050-7771-2-3
2. Carter N.P., Ferguson–Smith M.A., Perryman M.T. et al. Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. Journal of Medical Genetics. 1992;29(5):299–307
3. Saez A., Andreu F.J., Bare M.L. et al. HER2 gene amplification by chromogenic in situ hybridisation (CISH) compared with fluorescence in situ hybridisation (FISH) in breast cancer – a study of two hundred cases. Breast. 2006;15:519–527. doi: 10.1016/j.breast.2005.09.008
4. Meltzer P., Guan X.Y., Burgess A. et al. Rapid generation of region specific probes by chromosome microdissection and their application. Nat Genet. 1992;1:24–28. doi: 10.1038/ng0492-24
5. Osoegawa K., de Jong P.J. BAC library construction (protocol). Bacterial Artificial Chromosomes. Methods in Molecular Biology. Volume 1 Library Construction, Physical Mapping, and Sequencing 2004;255:1-46. doi: 10.1385/1-59259-752-1:001
6. Veselinyová D., Mašlanková J., Kalinová K., et al. Selected In Situ Hybridization Methods: Principles and Application. Molecules. 2021; 26(13):3874. doi: 10.3390/molecules26133874
Review
For citations:
Zhilkina M.A., Zuev A.S., Babay T.S., Podus A.A., Sazhenova E.A., Tolmacheva E.N., Shevtsov D.G., Demeneva V.V., Vasilyev S.A. Development and validation of a novel method for generating locus-specific DNA probes for the diagnosis of chromosomal aberrations. Medical Genetics. 2025;24(11):63-66. (In Russ.) https://doi.org/10.25557/2073-7998.2025.11.63-66
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