How Alternative mRNA Splicing Leads to Genetic Disease
Department of Biology
North Carolina Central University
In this directed case study, students read about a little girl with beta-thalassemia, a life-threatening disease. Through a series of increasingly complex activities, they learn how alternative pre-mRNA processing (splicing) has caused her disease and how gene therapy that targets the process may provide a cure. The case was developed for a junior-level genetics course, but could be modified for use in a cell, molecular genetics, or molecular biology course.
- To engage students in learning the importance of proper pre-mRNA splicing: Over 50% of genetic diseases are caused by alternative splicing events.
- To introduce students to sequences crucial to proper splicing: Examining how mRNA that is not spliced correctly may lead to translation of a nonfunctional protein.
- To introduce the concept of pre-mRNA splicing preceding a unit on pre-mRNA processing.
- To provide an opportunity for students to use critical thinking skills as they analyze RNA data, examine sequence information, and contribute to the design of the treatment plan.
- (Optional) To provide a platform for subsequent class discussions of the likelihood that pre-mRNA gene therapy will become a reality during our lifetime.
KeywordsMolecular genetics; pre-mRNA processing; splicing; mRNA; antisense gene therapy; thalassemia; intron; extron; beta-globin inheritance; oligonucleotides
Educational LevelUndergraduate lower division, Undergraduate upper division
Type / MethodsDirected, Interrupted
Subject HeadingsCell Biology | Molecular Biology |