Brief Description of Inheritance Patterns

  • Annamária Kövesdi
  • Attila PatócsEmail author
Part of the Experientia Supplementum book series (EXS, volume 111)


Increasing data about the human genome and associations between certain genetic regions with various conditions and diseases positioned human genetics at the top of the most emerging fields in medicine. Many diagnostics algorithms and therapeutical approaches used in everyday practice are based on genetic data. Molecular genetic diagnostics covered by this book uses genetic data obtained using germline DNA. In this book, the role of somatic mutation testing will be not covered; however, in many chapters, i.e., on hereditary tumor syndromes, the role of somatic mutations as the second hit for tumorigenesis will be mentioned. Genetic variants (genotypes) identified in germline DNA are responsible for transmission of diseases (phenotypes). This chapter will briefly summarize classical inheritance patterns. Most of the heritable human diseases are transmitted in an autosomal recessive way, but others, i.e., inherited tumor syndromes, follow the autosomal dominant pattern. Nomenclature used for pedigree analysis as well as the main features of inheritance patterns are also briefly reviewed.


Inheritance Dominant Recessive Allele Mutation Homozygous Heterozygous 

List of Abbreviations


Congenital adrenal hyperplasia


Cytochrome P450 family 21 subfamily A member 2


Deoxyribonucleic acid


Loss of heterozygosity


Multiple endocrine neoplasia type 1


Multiple endocrine neoplasia type 2


Next-generation sequencing



The authors acknowledge the financial support of the Higher Education Institutional Excellence Program of the Ministry of Human Capacities in Hungary, within the framework of the Molecular Biology thematic program of the Semmelweis University.


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Laboratory Medicine, Faculty of MedicineSemmelweis UniversityBudapestHungary
  2. 2.“Lendület” Hereditary Endocrine Tumors Research GroupHungarian Academy of Sciences and Semmelweis UniversityBudapestHungary
  3. 3.Department of Molecular GeneticsNational Institute of OncologyBudapestHungary

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