Genetic Disease

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.