Skip to main content

Genetische Störungen

  • Chapter
  • First Online:
Molekulare Biotechnologie

Zusammenfassung

Genetische Defekte können sich sehr unterschiedlich auswirken: von belanglos bis hin zu lebensbedrohlich. Genetische Störungen wie Diabetes oder Muskeldystrophie werden in der Regel als Krankheiten erachtet, andere hingegen, wie Gaumenspalten und Farbenblindheit als Erbdefekte. Bei allen handelt es sich jedoch um das Ergebnis von Mutationen des genetischen Materials, der DNA. Manche Krankheiten werden direkt durch Mutationen hervorgerufen, aber auch die Anfälligkeit für Infektionskrankheiten und andere schädliche Umwelteinflüsse wie Strahlung wird durch die Gene beeinflusst.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 69.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Weiterführende Literatur

  • Antonarakis SE, Epstein CJ (2006) The challenge of Down syndrome. Trends Mol Med 12: 473–479

    Article  Google Scholar 

  • Butland SL, Devon RS, Huang Y, Mead CL, Meynert AM, Neal SJ, Lee SS, Wilkinson A, Yang GS, Yuen MM, Hayden MR, Holt RA, Leavitt BR, Ouellette BF (2007) CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics 8: 126

    Article  Google Scholar 

  • Edwards CA, Ferguson-Smith AC (2007) Mechanisms regulating imprinted genes in clusters. Curr Opin Cell Biol 19: 281–289

    Article  CAS  Google Scholar 

  • Feinberg AP (2007) Phenotypic plasticity and the epigenetics of human disease. Nature 447: 433–440

    Article  CAS  Google Scholar 

  • Gadsby DC, Vergani P, Csanády L (2006) The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature 440: 477–483

    Article  CAS  Google Scholar 

  • Green NS, Dolan SM, Murray TH (2006) Newborn screening: Complexities in universal genetic testing. Am J Public Health 96: 1955–1959

    Article  Google Scholar 

  • Hore TA, Rapkins RW, Graves JA (2007) Construction and evolution of imprinted loci in mammals. Trends Genet 23: 440–448

    Article  CAS  Google Scholar 

  • Jirtle RL, Skinner MK (2007) Environmental epigenomics and disease susceptibility. Nat Rev Genet 8: 253–262

    Article  CAS  Google Scholar 

  • Krokan HE, Kavli B, Slupphaug G (2004) Novel aspects of macromolecular repair and relationship to human disease. J Mol Med 82: 280–297

    Article  CAS  Google Scholar 

  • Li SH, Li XJ (2004) Huntingtin-protein interactions and the pathogenesis of Huntington’s disease. Trends Genet 20: 146–154

    Article  Google Scholar 

  • Nithianantharajah J, Hannan AJ (2007) Dynamic mutations as digital genetic modulators of brain development function and dysfunction. Bioessays 29: 525–535

    Article  CAS  Google Scholar 

  • Ollero M, Brouillard F, Edelman A (2006) Cystic fibrosis enters the proteomics scene: New answers to old questions. Proteomics 6: 4084–4099

    Article  CAS  Google Scholar 

  • Orr HT, Zoghbi HY (2007) Trinucleotide repeat disorders. Annu Rev Neurosci 30: 575–621

    Article  CAS  Google Scholar 

  • Paul S (2007) Polyglutamine-mediated neurodegeneration: Use of chaperones as prevention strategy. Biochemistry (Moscow) 72: 359–366

    Article  CAS  Google Scholar 

  • Ranum LP, Cooper TA (2006) RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29: 259–277

    Article  CAS  Google Scholar 

  • Ranum LP, Day JW (2004) Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 74: 793–804

    Article  CAS  Google Scholar 

  • Reik W (2007) Stability and flexibility of epigenetic gene regulation in mammalian development. Nature 447: 425–432

    Article  CAS  Google Scholar 

  • Sangiuolo F, D’Apice MR, Gambardella S, Di Daniele N, Novelli G (2004) Toward the pharmacogenomics of cystic fibrosis — an update. Pharmacogenomics 5: 861–878

    Article  CAS  Google Scholar 

  • Taylor RW (2005) Gene therapy for the treatment of mitochondrial DNA disorders. Expert Opin Biol Ther 5: 183–194

    Article  CAS  Google Scholar 

Download references

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Spektrum Akademischer Verlag Heidelberg

About this chapter

Cite this chapter

Clark, D.P., Pazdernik, N.J. (2009). Genetische Störungen. In: Molekulare Biotechnologie. Spektrum Akademischer Verlag, Heidelberg. https://doi.org/10.1007/978-3-8274-2189-0_16

Download citation

  • DOI: https://doi.org/10.1007/978-3-8274-2189-0_16

  • Published:

  • Publisher Name: Spektrum Akademischer Verlag, Heidelberg

  • Print ISBN: 978-3-8274-2128-9

  • Online ISBN: 978-3-8274-2189-0

  • eBook Packages: Life Science and Basic Disciplines (German Language)

Publish with us

Policies and ethics