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Inheritance and Mutations in a Single-Gene Disorder Activity Student Handout INTRODUCTION Some diseases are caused by the environment. For example, exposure to chemicals or extremely bright lights can cause certain forms of blindness. But other forms of blindness are inherited, meaning that they are passed on from one generation to another. In this activity, you will learn about a young woman, Molly Troxel, who has an inherited form of blindness called Leber congenital amaurosis (LCA). The activity explores how LCA is inherited, the mutations that cause it, and how the disease can be treated to help Molly and other patients. PART 1: Determining LCA’s Pattern of Inheritance Watch the short film Genes as Medicine until time 1:42. You will meet Molly and learn about what causes her blindness. Use what you learn from the film to answer the following questions. 1. Imagine you’re a doctor treating a patient with severe vision issues. What questions might you ask to determine whether these issues are more likely to be inherited or caused by environmental factors? You would ask the patient or the patient's parents if there is any known family history of the disease. If there is family history of the disease, it is more likely that it is inherited, if not, it is not likely that the disease is inherited. Some inherited diseases, including LCA, may be caused by mutations in a single gene. Pedigrees can be used to determine the patterns of inheritance for these diseases. In a 1998 ...
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Very useful material for studying!