Interactive Case Study for The Search for a Mutated Gene

Topic
Resource Type
Description
This video case study explores the approaches scientists used to identify a mutation that causes retinitis pigmentosa (RP), a progressive disease that leads to blindness.
RP results in the deterioration of the retina and loss of vision. Some cases of RP are inherited and caused by mutations in one of several different genes. Many mutations that cause RP have been identified. But when scientists tested the DNA of the patient featured in this video, Sam, they did not find any of these known mutations. The video follows physician-scientist Edward Stone as he tried to uncover the mutation that causes Sam’s RP.
This video incorporates embedded questions at automatic pause points, where students are asked to make predictions, construct explanations, and analyze data. After answering all the questions, students can view their answers in a “Report” that can be printed. They can also add further explanation to each answer in the Report if their thinking has changed. The video can also be shown without embedded questions using "Presentation Mode."
The “Resource Google Folder” link directs to a Google Drive folder of resource documents in the Google Docs format. Not all downloadable documents for the resource may be available in this format. The Google Drive folder is set as “View Only”; to save a copy of a document in this folder to your Google Drive, open that document, then select File → “Make a copy.” These documents can be copied, modified, and distributed online following the Terms of Use listed in the “Details” section below, including crediting BioInteractive.
Student Learning Targets
- Formulate a hypothesis to explain how a mutation in a gene would affect the function of a cell and an organism.
- Describe the possible steps involved in identifying a disease-causing gene mutation in a patient.
- Predict how replacing a mutated gene with a functioning copy of that gene will affect the phenotype of a cell and/or organism.
- Explain how the identification of disease-causing mutations can be used to develop medical treatments.
Estimated Time
Key Terms
genetic disease, genomics, model organism, mutation, retinitis pigmentosa (RP), tRNA
Primary Literature
DeLuca, Adam P., S. Scott Whitmore, Jenna Barnes, Tasneem P. Sharma, Trudi A. Westfall, C. Anthony Scott, Matthew C. Weed, et al. “Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.” Human Molecular Genetics 25, 1 (2016): 44–56. https://doi.org/10.1093/hmg/ddv446.
Terms of Use
Please see the Terms of Use for information on how this resource can be used.
Accessibility Level (WCAG compliance)
Version History
NGSS (2013)
HS-LS1-1, HS-LS3-1, HS-LS3-3; SEP6
AP Biology (2019)
IST-1.K, IST-1.P, IST-2.E, IST-4.A; SP1, SP3
IB Biology (2016)
3.4, 3.5
Vision and Change (2009)
CC3; DP1, DP6