Genetic research

Karyotype test

A karyotype is a set of human chromosomes. It describes all the features of genes: size, quantity, shape. Normally, the genome consists of 46 chromosomes, 44 of which are autosomal, that is, they are responsible for hereditary traits (hair and eye color, ear shape, etc.).

DNA paternity test

From school lessons we remember that a person, like any other living organism, consists of many cells. A person has approximately 50 trillion of them.

Molecular diagnosis of prostate cancer

The history of biomarker diagnostics of prostate cancer (PCa) spans three quarters of a century. In their studies, A.B. Gutman et al. (1938) noted a significant increase in the activity of acid phosphatase in the blood serum of men with metastases of PCa.

Genetic screening

Genetic testing may be used if there is a risk of a particular genetic disorder occurring in a family.

Diagnosis of monogenic disorders

Monogenic defects (determined by one gene) are observed more often than chromosomal ones. Diagnosis of diseases usually begins with the analysis of clinical and biochemical data, the pedigree of the proband (the person in whom the defect was first detected), and the type of inheritance.

Diagnosis of multifactorial diseases

In multifactorial genetic diseases, there is always a polygenic component consisting of a sequence of genes that cumulatively interact with each other.

Diagnosis of syndromes due to sex chromosome aberrations

Human sex is determined by a pair of chromosomes - X and Y. Female cells contain two X chromosomes, male cells contain one X and one Y chromosome. The Y chromosome is one of the smallest in the karyotype, and contains only a few genes not related to sex regulation.

Diagnosis of syndromes caused by structural abnormalities of chromosomes (deletion syndromes)

Microdeletions of adjacent genes on a chromosome cause a number of very rare syndromes (Prader-Willi, Miller-Dieker, DiGeorge, etc.). Diagnosis of these syndromes has become possible due to improvements in the method of preparing chromosome preparations. If a microdeletion cannot be detected by karyotyping, DNA probes specific to the region that has been deleted are used.

Diagnosis of syndromes due to autosomal aberrations

Karyotyping is the main method for diagnosing these syndromes. It should be noted that chromosome segmentation detection methods accurately identify patients with specific chromosomal abnormalities, even in cases where the clinical manifestations of these abnormalities are minor and non-specific. In complex cases, karyotyping can be supplemented by in situ hybridization.

Restriction fragment length polymorphism analysis

To isolate polymorphic DNA regions, bacterial enzymes are used - restrictases, the product of which are restriction sites. Spontaneous mutations that occur in polymorphic sites make them resistant or, conversely, sensitive to the action of a specific restrictase.