Karteikarten am Genetic Disease, erstellt von Raheem Chaudhry am 01/04/2018.
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Erstellt von Raheem Chaudhry
vor mehr als 6 Jahre
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Schließen
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Erstellt von Raheem Chaudhry
vor mehr als 6 Jahre
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Describe the different types of genetic mutations. [6 marks]
Describe nonsense-mediated mRNA decay. [2]
Briefly outline the Gene-to-Protein pathway. [3]
Effects of different types of mutations. [4]
Define "Loss-of-Function" mutations and give a pathological example. [2]
What is the role of dystrophin? [2]
What sort of mutation is most likely to cause Duchenne Muscular Dystrophy? [1]
Inheritance of Duchenne Muscular Dystrophy. [1]
What is Gower's Sign? [1]
Describe "Gain-of-Function" mutations. [2]
Give an example of a "gain-of-function" mutation resulting in a pathological condition. [2]
Describe the specific mutation in Huntington's Disease and its affect. [6]
Define "dominant-negative" mutations. [2]
Explain how Osteogenesis Imperfecta is an example of the dominant-negative effect.
What is the "gene dosage effect"? Give an example of the effect in pathology.
