Genetic research

Learn how genetic research testing is performed, how to prepare, and how to interpret results together with a clinician.

In situ hybridization: cytogenetic diagnostics on cells

Hybridization can be performed not only on gels, filters, or in solution, but also on histological or chromosomal preparations. This method is called in situ hybridization.

Southern blotting: a method for detecting mutations and rearrangements

Southern blotting (developed by E. Southern and R. Davis in 1975) is the primary method currently used to identify disease genes. DNA is extracted from the patient's cells and treated with one or more restriction endonucleases.

Karyotyping: chromosome analysis and indications

Romanowsky-Giemsa stain, 2% acetcarmine, or 2% acetarsein are most commonly used for chromosome staining. These stain entire chromosomes uniformly (a routine method) and can be used to detect numerical abnormalities in human chromosomes.

X and Y-chromatin: cytogenetic diagnosis of sex

Determining X and Y chromatin is often referred to as a rapid sex diagnosis method. Cells from the oral mucosa, vaginal epithelium, or hair follicle are examined. The nuclei of female cells contain two diploid X chromosomes, one of which is completely inactivated (coiled, tightly packed) already in the early stages of embryonic development and is visible as a clump of heterochromatin attached to the nuclear membrane.

Genetic testing: when is it needed and what types are there?

In recent years, the share of hereditary diseases in the overall disease landscape has increased. Consequently, the role of genetic research in practical medicine is growing. Without a thorough understanding of medical genetics, it is impossible to effectively diagnose, treat, and prevent hereditary and congenital diseases.

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