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Tazswana’s Story

How Alternative mRNA Splicing Leads to Genetic Disease


Author(s)

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 Areas

N/A

Educational Level

Undergraduate lower division, Undergraduate upper division

Format

PDF

Type / Methods

Directed, Interrupted

Language

English

Subject Headings

Cell Biology  |   Molecular Biology  |  


Date Posted

12/12/2006

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