The Search for a Mutated Gene Interactive Video

Embedded Questions

Time 0:00 Introduction

You will watch a short video that presents the approaches scientists used to identify a mutation that causes retinitis
pigmentosa (RP) in a patient. At various points, the video will pause and you will be asked to think about the
research. You will not be able to continue to watch the video, until you have answered and saved your response to
the prompt.
As you answer the prompts, keep in mind that some questions do not have a "right answer." You will have the
opportunity to revisit your responses at the end of the video.

Time 0:10 Embedded Prompt

In a few words, describe what you know about gene therapy. A technique that modifies someone’s genes to treat
a disease.

Time 1:35 Embedded Question

Sam's parents don't have retinitis pigmentosa (RP). How can RP be an inherited condition? You can inherit it when
at least one parent carries an altered gene associated with the trait.
Extension Questions:
• How do our brains convert information from light entering our eyes into an image? The retina receives the
image that the cornea focuses on through the eye’s internal lens and it then transforms this image into
electrical impulses that are carried by the optic nerve to the brain.
• What is disease? How do organisms get diseases? Diseases spread through the direct transfer of bacteria,
viruses, or other germs from one person to another. This happens when someone with the bacterium or
virus coughs or sneezes on a person who isn’t infected.
• What is a genetic mutation and what are its effects? Genetic mutations can prevent an embryo from
surviving until birth.
• How is searching for a treatment for a genetic disease different from that for a disease caused by
something else, such as bacteria or viruses? They are caused by mutations that are inherited from
parents and are present in an individual at birth.

Time 2:56 Embedded Question

You collect blood samples, which contain DNA, from a patient with RP and their relatives. Some of the relatives
have RP and some do not. Outline a strategy for using these samples to identify the disease-causing mutation in the
patient. First, identify the gene that causes pigmentation in the retina. Then run the blood samples in a gel
electrophoresis. The patient with RP will be the marker for the mutation. The mutated DNA will differ in size
with the DNA without a mutation, and we can tell from the gel electrophoresis plate. If the mutation is small,
genome sequencing can be done. If it matches with the parent’s DNA it will be mutated. The site and type of
mutation can be checked by comparing the patient’s genome to the normal genome.

Time 3:22 Embedded Question

How can mutations in different genes be associated with a single disease? The mutations in different genes have
the possibility to lead to causing the same disease because different genes can be responsible for change in
protein production pattern or disrupt signals which can cause the disease.
Extension Questions:
• Why would a researcher use a pedigree to study a disease? To determine disease inheritance patterns
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 • Many characteristics of an organism are controlled by more than one gene. Likewise, many of the
biochemical processes and pathways involve proteins produced by different genes. Explain how this relates
to the existence of many different mutations that cause RP. Genes with missing peptide bonds or if
they’re altered can result in a mutation that causes RP.
• Can you think of any other diseases or conditions that are caused by mutations in different genes?
Hypertrophic cardiomyopathy

Time 4:02 Embedded Question

A scan of Sam’s genome for the 100 most common mutations known to cause RP didn’t find anything. How can you
explain this result? A person with RP lacks or has an altered RP gene.

www.BioInteractive.org Published February 2020

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Interactive Video
The Search for a Mutated
Gene EmbeddedQuestions

Time 5:16 Embedded Question

Sam has a mutation in a gene that affects the function of a transfer RNA (tRNA). Human cells have 20 different
types of tRNAs, and each adds a different amino acid to growing peptide chains, which form proteins.
Based on what you know so far, would you expect this mutation to affect all proteins produced in Sam’s cells?
Explain your reasoning. Yes, it affects protein synthesis. When certain amino acids aren’t added it slows the
production of protein.

Time 6:30 Embedded Question

What evidence could you collect to confirm that the mutation identified in Sam’s DNA causes symptoms of RP? A
model organism can be used to confirm that the mutation identified in Sam’s DNA cause symptoms of RP.
Extension Question:
• Some mutations are lethal and others are not. Explain the difference between these two types of
mutations in terms of cellular function. The difference between these two are the varying degrees
of severity and the phenotypes, because of the fact the genome consists of several genes.

Time 7:56 Embedded Question

Doctors may be able to inject a functioning copy of the gene mutated in Sam’s DNA in the cells of his eyes. If the
procedure were successful, would you expect Sam to regain his vision? Why or why not? Successful gene therapy
will prevent further vision loss.
Extension Question:
• In your own words, explain why researchers use model organisms such as zebrafish. Can you name any other
model organisms? Researchers use model organisms because their genome is fully sequenced and has
easy genetic manipulation. A fruit fly is a model organism.

Time 8:30 Embedded Question

Other than identifying a target for gene therapy, how does identifying a disease-causing mutation help a patient
and their family? It helps healthcare professionals assess risk factors for developing certain conditions in the
offspring.
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 • Genetic medicine is an emerging technology that holds great promise for many diseases. Are there any
ethical concerns with genetic medicine as described in this case study? Explain your perspective. I think
affordability and cost will be the most ethical concern.
• Are there any other diseases you know of that currently are or could potentially be treated or cured
through genetic medicine? Sickle cell
• Search newspapers, magazines, or the scientific literature for diseases being treated through genetic
medicine. Have there been successes? Failures? Sickle cell disease is being treated though genetic
medicine and has been effective.

www.BioInteractive.org Published February 2020

Page 2 of 2

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