Application of modern methods of molecular genetics In practice

Abstract

Introduction: The development of new methods of molecular genetics, especially in the last two decades, has led to enormous progress in the field of medicine and enabled more comprehensive prenatal and postnatal diagnosis of hereditary diseases and other disorders, as well as preimplantation testing. Aim: The aim of the work is to present modern methods of molecular genetics and their application in the diagnosis of hereditary diseases and developmental disorders. Methods: Having reviewed the relevant literature, insight was gained into the current development of molecular genetic methods and their practical application. Results: Chromosome microarray is an analysis of all chromosomes in the genome, which, thanks to microchip technology, enables the detection of chromosomal microdeletions and microduplications, as well as changes in the number of copies, in just one reaction. This method has found application in all areas of clinical genetics, and especially in the detection of genomic changes in patients with intellectual disabilities, developmental delays, autism spectrum disorders and congenital anomalies. The gene microarray is also based on microchip technology, and depending on the type of DNA chip used, it is used to detect mutations and DNA variations at the level of the entire genome or to study gene expression. The rapid development of biotechnology and bioinformatics has enabled the simultaneous analysis of a large number of genes through parallel (deep) sequencing, known as a new generation of DNA sequencing methods. This technology detects already known gene variants, new ones, as well as the presence of a predisposition. Today, in clinical practice, differently designed gene panels are used for postnatal diagnosis of monogenic and multifactorial diseases. Particularly noteworthy are the “clinical exome” panels with over 6,000 genes, the whole exome (about 22,000 genes) or the whole genome.Conclusion: Modern times have marked the development and improvement of molecular genetics methods for quick and more accurate diagnosis of hereditary diseases and developmental disorders, which gives a new perspective on the possibilities of prenatal, postnatal and preimplantation genetic testing.