Pediatria pre prax 6/2013

Molecular genetics for physicians

Molecular genetics has become an integral part of clinical practice that helps to diagnose the patients with unclear clinical features and allows the early determination of the adequate therapy and treatment. Molecular-genetic testing results can be difficult to understand for non-geneticists. At present, the interest in this testing increases so the correct interpretation of the molecular-genetic testing results becomes a necessity for clinical professionals from all medical fields. This article provides an overview of the basic terms used in genetics, different types of gene and chromosome changes with examples of their records and correct interpretation and also the overview of the methods used in detection of chromosomal aberrations.

Keywords: DNA, essential amino acids, protein sequence, variants, mutations, chromosome.