Moleküler Genetik Tanı Yöntemleri

Abstract

Molecular genetic diagnosis methods include tests and analyses performed at the level of DNA, gene, protein, cell, and tissue, especially to determine the underlying origins of diseases. Molecular diagnosis appears because of the efficient interaction between laboratory medicine, genomic information, and technology in the field of molecular genetics. All these factors contribute to the identification and full characterization of the genetic basis of hereditary diseases, which is vital for the correct diagnosis. Current methods, such as next-generation sequencing or genome-level association studies, provide crucial insights into disease mechanisms, and genomic biomarkers provide an opportunity for physicians not only to assess disease susceptibility, but also to design and implement accurate diagnostic methods and personalize drug treatment modalities. The identification of the genes involved in human diseases has led to a significant increase in scientific data on genetic disorders. Therefore, it has allowed the emergence of new views on the pathogenesis and treatment of diseases. In general, the first clinical application of knowledge of the molecular genetic basis of a disease is in diagnosis. In many cases, molecular techniques are sensitive methods that allow precise genetic identification of individuals carrying mutations by performing DNA analysis on target tissue. DNA analysis is now routinely used in the diagnosis of individuals showing symptoms of different diseases due to mutations in single genes. In molecular diagnostic methods, DNA analyses are used for presymptomatic tests, carrier tests, and prenatal diagnosis, which can identify variants in genes involved in drug metabolism and allow personalizing of drug dosage. As new genes that contribute to the occurrence and pathogenicity of common diseases begin to be recognized, it is expected that new genetic analysis will be used to predict whether an individual is at risk for the disease and to identify subtypes that may best respond to specific treatments. Advances in molecular genetic techniques, Next-generation sequencing (NGS) technologies, and bioinformatics tools will provide the opportunity to conduct more comprehensive molecular genetic studies and access very valuable data in scientific research. In this chapter, after discussing the techniques used in direct mutation analysis and detection of unknown mutations, microarray technology and various platforms of NGS technology and their usage areas in different research studies are discussed.