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Tazswana’s Story

How Alternative mRNA Splicing Leads to Genetic Disease



Author:

Cathy Silver Key
Department of Biology
North Carolina Central University
ckey@nccu.edu

Abstract:

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.

Objectives:
  • 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.
Keywords: Molecular genetics; pre-mRNA processing; splicing; mRNA; antisense gene therapy; thalassemia; intron; extron; beta-globin inheritance; oligonucleotides
Topical Area: N/A
Educational Level: Undergraduate lower division, Undergraduate upper division
Formats: PDF
Type/Method: Directed, Interrupted
Language: English
Subject Headings: Cell Biology   Molecular Biology  
Date Posted: 12/12/2006
Date Modified: 3/3/2016
Copyright: Copyright held by the National Center for Case Study Teaching in Science, University at Buffalo, State University of New York. Please see our usage guidelines, which outline our policy concerning permissible reproduction of this work.

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