Introduction to Molecular Genetics

Abstract

In the last decades, molecular genetics has been rapidly integrated into the diagnostics of cardiovascular diseases, at first not only to solve well-defined familial cases but with the recent developments of next-generation sequencing (NGS) also to identify genetic components involved in complex genetic cardiac diseases and to implement personalized genomics into routine patient care. In this introductory chapter, several aspects of molecular genetics will be described and discussed. Firstly, the molecular basics of DNA, RNA, and proteins and the different types of genetic mutations and their effects at the level of these different molecules will be addressed in the sections “DNA, RNA, and Proteins” and “Genetic Mutations.” As the mode of inheritance of mutations as well as the specific outcomes in mutation carriers may differ, several aspects related to this is being discussed in the “Genes in Families and Populations” section. Although NGS is becoming the most widely used technique to identify mutations, still several other techniques are being applied, and in the “Molecular Genetic Techniques” section, an overview of all currently used methods is provided. With the use of the aforementioned techniques, often large amounts of data are being produced, and careful analysis and interpretation of these data to dissect “noise” from truly relevant information is of utmost importance. The section “Analysis and Interpretation” will focus on this. The use of molecular genetics already led to the identification of significant numbers of genes underlying cardiovascular diseases; however, still more are to be discovered, and approaches to do this are being described in the “Finding New Disease Genes” section. Finally, in the section “Clinical Genetic Diagnostics, " the integration of molecular genetics in daily clinical genetic patient care is being addressed.