Genetic Inheritance Patterns and Mutations

Genetic Inheritance Patterns and Mutations
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Genetic inheritance is a complex process involving various patterns such as autosomal dominant inheritance, haploinsufficiency, gain of function mutations, and dominant negative effects. Understanding these patterns is crucial in the study of genetics and hereditary conditions. Explore the impact of different mutations on gene function and inheritance. Various genetic disorders like Huntington's, Alport syndrome, Crouzon syndrome, Pautz-Jeghers syndrome, and others exhibit unique inheritance patterns. Delve into the intricacies of genetic mutations and their implications in inherited diseases.

  • Genetics
  • Inheritance Patterns
  • Mutations
  • Genetic Disorders
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Uploaded on Apr 19, 2025 | 0 Views

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  2. Autosomal dominant inheritance ( ( ) ) A a A A A a a a 50

  4. Haproinsufficiency

  5. Haproinsufficiency

  6. Gain of function Gain of function mutation Activating mutation

  7. Activating mutation Activating mutation Gain of function mutation

  8. Dominant negative

  9. 1/ 1/2 2

  12. A a Aa a aa 1:1 (Aa) (Aa) AD-1 AD-2 A a A a AA AA Aa Aa AA Aa Aa aa A A (AA) (Aa) A a 3 1 (aa ) 1 1

  13. A a Aa a aa 1:1 AA Aa AA Aa AA AA Aa Aa AA Aa Aa AA Aa aa AA Aa

  14. 1. 2. 3. AA Aa AA Aa AA AA Aa Aa AA Aa Aa AA Aa aa AA Aa A A A a a a

  15. Huntington( ( von Hippel-Lindow ) ) Alport Crouzon Pautz-Jeghers Gardner Gilbert von Recklinghausen Ehlers-Danlos Marfan ( ( ) )

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