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Genetic research

Молекулярная диагностика рака простаты

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

Генетическое обследование

Genetic examination can be used in case of risk of occurrence of this or that genetic infringement in a family.

Диагностика моногенных нарушений

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

Диагностика мультифакториальных заболеваний

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

Диагностика синдромов, обусловленных аберрациями половых хромосом

The sex of a person is determined by a pair of chromosomes - X and Y. In women cells, there are two X chromosomes, in men's cells there is one chromosome X and one Y. The chromosome Y is one of the smallest in a karyotype, only a few genes that are not related to it regulation of sex.

Диагностика синдромов, обусловленных структурными аномалиями хромосом (делеционных синдромов)

Microdeletions of neighboring genes on the chromosome cause a number of very rare syndromes (Prader-Willi, Miller-Dicker, Di-Georgie, etc.). Diagnosis of these syndromes became possible due to the improvement of the method of preparation of chromosome preparations. In the event that the microdeletion can not be detected by karyotyping, DNA probes specific to the region that has undergone deletion are used.

Диагностика синдромов, обусловленных аберрациями аутосом

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

Анализ полиморфизма длины рестрикционных фрагментов

To isolate polymorphic regions of DNA, bacterial enzymes are used - restriction enzymes, 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 restriction enzyme.

Гибридизация in situ

The hybridization procedure can be carried out not only on the gel, on filters or in solution, but also on histological or chromosomal preparations. This method is called in situ hybridization.


Southern blotting (developed by E. Southern and R. Davies in 1975) is the main method by which genes of a particular disease are being identified. For this, DNA from the patient's cells is extracted and processed with one of the restriction endonucleases (or several).

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