Introduction
The sequence of nitrogen bases along a DNA strand can be thought of as the recipe or list of ingredients to make proteins, which our bodies need to function properly. Any change or variation to this ingredient list can influence the “final product,” and in genetic terms this is known as a mutation.
In this lab activity, we will apply what we have learned about DNA and protein synthesis to predict the outcome of various mutations, focusing on the human gene for dystrophin. Dystrophin is a protein that helps build healthy muscle, and mutations in the associated gene can lead to the disease Muscular Dystrophy (MD). MD is a group of diseases that cause progressive weakness and loss of muscle mass. There are many different kinds of MD, and symptoms of the most common variety begin in childhood. Some people who have MD will eventually lose the ability to walk, or have trouble breathing or swallowing. There is no cure for MD, but medications and therapy can help manage symptoms and slow the course of the disease.
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