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Monogenic Disorders

  • Aaron GardnerEmail author
  • Sarah Stauffer
  • Lindsay Petley-Ragan
  • Philip Wismer
  • Dewi Ayu Kencana Ungu
Chapter

Abstract

Join a team of doctors and learn about the basics of monogenic disorders and how to perform a genetic risk assessment based on family history and genetic tests. As the name suggests monogenic disorders arise due to mutations or changes in a single gene. Cystic fibrosis (CF) is the most common life‐limiting genetic disorder in those of North European descent, estimated to affect 70,000 people worldwide. CF is a monogenic disorder caused by one of over 2000 disease‐causing mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Importantly, as a recessive disorder, both copies of the gene must carry mutations for the disease to manifest.

Further reading

  1. Alberts B et al (2015) The molecular biology of the cell, 6th edn. Garland Science, AbingdonGoogle Scholar
  2. Hartwell L et al (2015) Genetics: from genes to genomes, 5th edn. McGraw-Hill, BostonGoogle Scholar
  3. OpenStax (2018) Biology. OpenStax CNX. http://cnx.org/contents/185cbf87. Accessed 1 June 2018Google Scholar
  4. Urry LA et al (2014) Campbell biology, 10th edn. Pearson, BostonGoogle Scholar

Copyright information

© Labster ApS under license to Springer Verlag GmbH 2019

Authors and Affiliations

  • Aaron Gardner
    • 1
    Email author
  • Sarah Stauffer
    • 1
  • Lindsay Petley-Ragan
    • 1
  • Philip Wismer
    • 1
  • Dewi Ayu Kencana Ungu
    • 1
  1. 1.Labster Group ApSKøbenhavn KDenmark

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