Grundlagen der Humangenetik: Vom Stammbaum zur Genanalyse

This article provides an overview on the basic principles of human genetics and modern molecular genetic testing methods. We explain the organisation of our genome, different types of mutations and basic rules of human inheritance. In addition, genetic terms and main features of pedigree construction are illustrated. In the second part of the article, we introduce qualitative and quantitative methods of mutational analysis, including next generation sequencing presented in the diagnostic and the research setting. Finally, the article covers different forms of genetic testing (diagnostic, prenatal, predictive) and discusses related ethical issues.