SCIENCE LAB Activities

Human Genetic Disorders

Richard Showman

This module and its accompanying materials is designed to introduce students to the fundamental genetic principal underlying human genetic disorders and how they manifest themselves at the physical and biochemical level. At the core of the module is a half day laboratory exercise involving a biochemical analysis of different human hemoglobin samples, including donors with symptoms of sickle cell anemia. The students learn the fundamentals of electrophoresis then construct their own agarose gels, add purified control and "unknown" human globin samples, and carry out a short electrophoretic separation of the proteins. They then analyze the results and determine the charge differences between normal and sickle cell hemoglobin. They then determine if their patient samples are likely to acquire the disease, are carriers, or are free of the mutant allele. Pre and post-laboratory materials include a series of computer-based exercises that lead the students through a highly visual explanation of mitosis and meiosis, and the role of allele segregation in other human genetic disorders.

 

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