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Cytogenetic and molecular genetic methods of chromosomal translocation detection with reference to the KMT2A geneстатья
Статья опубликована в высокорейтинговом журнале
Статья опубликована в журнале из списка Web of Science и/или Scopus- Авторы: Lomov Nikolai, Zerkalenkova Elena, Lebedeva Svetlana, Viushkov Vladimir, Rubtsov Mikhail
- Журнал: Critical Reviews in Clinical Laboratory Sciences
- Год издания: 2020
- Издательство: Taylor & Francis
- Местоположение издательства: United Kingdom
- DOI: 10.1080/10408363.2020.1844135
- Аннотация: Acute leukaemias are often associated with chromosomal translocations, in particular, KMT2A/MLL gene rearrangements. Identification or confirmation of these translocations is carried out by a number of genetic and molecular methods, some of which are routinely used in clinical practice, while others are primarily used for research purposes. In the clinic, these methods serve to clarify diagnoses and monitor the course of disease and therapy. On the other hand, the identification of new translocations and the confirmation of known translocations is of key importance in the study of disease mechanisms and further molecular classification. There are multiple methods for the detection of rearrangements that differ in their principle of operation, the type of problem being solved, and the cost-result ratio. This review is intended to help researchers and clinicians studying acute leukaemia and related chromosomal translocations to navigate this variety of methods.All methods considered in the review are grouped by their principle of action and include karyotyping, FISH with probes for whole chromosomes or individual loci, PCR- and reverse transcription-based methods, and high-throughput sequencing. Another characteristic of the described methods is the type of problem being solved. This can be the discovery of new rearrangements, the determination of unknown partner genes participating in the rearrangement, or the confirmation of the proposed rearrangement between the two genes. We consider the specifics of the application, the basic principle of each method and its pros and cons. To illustrate the application, examples of studying the rearrangements of the KMT2A/MLL gene, one of the genes that is often rearranged in acute leukaemia, are mentioned.
- Добавил в систему: Ломов Николай Андреевич