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Risikoberechnungen beim X-chromosomal rezessiven Erbgang

Risk calculation in autosomal recessive inheritance

Zusammenfassung

Am Beispiel der Muskeldystrophie Duchenne werden Risikoberechnungen beim X-chromosomal rezessiven Erbgang mithilfe des Bayesschen Rechentableaus durchgeführt und dabei demonstriert, wie sich auch komplexe genetische Modelle berücksichtigen lassen und auf das Risiko auswirken.

Abstract

Using the example of Duchenne muscular dystrophy, risk calculations for X-linked recessive traits are performed using the Bayesian computation tableaus, demonstrating how to take even complex genetic models and their impact on the calculated risk into consideration.

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Correspondence to T. Grimm.

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Grimm, T., Fischer, C. Risikoberechnungen beim X-chromosomal rezessiven Erbgang. medgen 23, 373–376 (2011). https://doi.org/10.1007/s11825-011-0294-8

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Schlüsselwörter

  • X-chromosomaler Erbgang
  • Bayes-Theorem
  • Mutation
  • Mosaik
  • Muskeldystrophie Duchenne/Becker

Keywords

  • X-linked inheritance
  • Bayes theorem
  • Mutation
  • Mosaicism
  • Muscular dystrophy, Duchenne/Becker