Genetic research

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

Karyotype analysis: why it's done and how to take it

A karyotype is a person's chromosome set. It describes all the characteristics of genes: size, number, and shape. Normally, the genome consists of 46 chromosomes, 44 of which are autosomal, meaning they are responsible for hereditary traits (hair and eye color, ear shape, and others).

DNA Paternity Test: How It's Done and How Accurate It Is

We remember from school that humans, like any other living organism, are made up of many cells. Humans have approximately 50 trillion of them.

Molecular testing for prostate cancer

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

Genetic testing: who is it indicated for and what does it reveal?

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

Monogenic disorders: genetic diagnosis and examples

Monogenic defects (determined by a single gene) are observed more frequently than chromosomal ones. Diagnosis usually begins with an analysis of clinical and biochemical data, the pedigree of the proband (the person in whom the defect was first diagnosed), and the inheritance pattern.

Multifactorial diseases: principles of diagnosis

Multifactorial genetic diseases always have a polygenic component consisting of a sequence of genes that cumulatively interact with each other.

Sex chromosome aberrations: diagnosis of syndromes

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

Deletion syndromes: diagnosis of structural chromosome abnormalities

Microdeletions of adjacent genes on a chromosome cause a number of very rare syndromes (Prader-Willi, Miller-Dieker, DiGeorge, and others). Diagnosis of these syndromes has become possible thanks to improvements in chromosome preparation techniques. If a microdeletion cannot be detected by karyotyping, DNA probes specific to the region affected by the deletion are used.

Autosomal aberrations: diagnosis of chromosomal syndromes

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

Restriction fragment length polymorphism: the RFLP method

To isolate polymorphic DNA regions, bacterial restriction enzymes are used, which produce restriction sites. Spontaneous mutations that occur at polymorphic sites render them resistant or, conversely, sensitive to the action of a specific restriction enzyme.

Pages