Brovko A. Optimization of identifying chromosomal material of unknown origin and complex chromosomal rearrangements

The dissertation is devoted to the actual problem of laboratory genetics - determination ways to optimize the process of identification of chromosomal material of unknown origin and complex chromosomal rearrangements. It is shown that the final determination of the karyotype of the patient requires a complex molecular cytogenetic methods application. By standard cytogenetic approaches karyotype is determined by the final in 94.4% of cases. Methods of CBG, QFQ NOR-Ag confirmed 84% of cases of chromosomal polymorphism. And 16% of cases of severe chromosomal polymorphism detected by GTG, is the result of translocation, and need to be clarified by FISH. Identification by FISH of marker chromosomes is effective in 80%. Application of chromosome microdissection allow to get a unique DNA probes to identify chromosomal material identification not specified origin. An additional chromosomal material identified by FISH with WCP DNA probes with an efficiency of 100%. In the case of chromosomal material not specified origin or complex chromosomal rearrangements, in karyotype, the use of consistent application of various modifications FISH provides an opportunity to identify the most chromosomal abnormalities. Based on these data, the molecular cytogenetic diagnostics algorithm was developed to identify such cases.