Grundlagen der Humangenetik: Vom Stammbaum zur Genanalyse

Y. Hellenbroich; Ch Klein

doi:10.1055/s-0031-1277200

Grundlagen der Humangenetik: Vom Stammbaum zur Genanalyse

Translated title of the contribution: Basic principles of human genetics: From pedigree to gene analysis

Y. Hellenbroich, Ch Klein^*

^*Corresponding author for this work

Abstract

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.

Translated title of the contribution	Basic principles of human genetics: From pedigree to gene analysis
Original language	German
Journal	Sprache Stimme Gehor
Volume	35
Issue number	2
Pages (from-to)	72-77
Number of pages	6
ISSN	0342-0477
DOIs	https://doi.org/10.1055/s-0031-1277200
Publication status	Published - 24.06.2011

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Grundlagen der Humangenetik: Vom Stammbaum zur Genanalyse

Abstract

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