Task 2: Tracing Molecular Causes

Introduction:
In this task you will be providing information to your clients about
the symptoms and the molecular causes of the disease. Recall your
clients from the previous TASK 1 and continue researching your same
disease.
*If you did not do TASK 1 then just select ONLY ONE of the four
diseases below and you can still receive full credit on this task.

*REMEMBER, EVERYONE IS DOING ONLY ONE OF

THE DISEASES BELOW*
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Tay-sachs: Couple 1
PART I: Use the internet to find the information to complete the first
2 questions in the table below. You may use the links below instead of
finding your own. Don’t forget to cite your sources.

Resources:
https://kidshealth.org/en/teens/genes-genetic-disorders.html (target
audience- Teens)
https://www.mayoclinic.org/ (target audience- adults/general public)
https://www.omim.org/ (target audience- adults/scientists)

Disease Information

Tay-sachs

Symptoms: Citation:
● Seizures Tay-Sachs disease -
● Vision loss Symptoms and
● Muscle weakness causes - Mayo
● Hearling loss
Clinic
https://www.mayoclinic.org
› syc-20378190
 ● Movement problems

Name of affected protein: hexosaminidase Citation:

Tay-Sachs disease:
MedlinePlus
Medical
Encyclopedia
https://medlineplus.gov ›
Medical Encyclopedia

Part II: Determine the amino acid sequence of the region of the
mutated gene shown using the codon chart provided and answer the
questions that follow based on your amino acid sequencing.

Amino Acid Sequence

Tay-Sachs
 Normal gene Mutated Gene

DNA ATA TCC TAT ATA TCT ATC

mRNA UAU AGG AUA UAU AGA UAG

Amino Tyr Ars ile Tyr Arg STOP

Acid

1. What is the difference between the amino acid sequences of the

normal and the mutated proteins? The mutated contains ¨STOP¨
while normal doesnt

2. How might that change affect the function of the protein?

(Remember when we discussed the relationship between structure
and function) Translation would be terminated before it was complete.

CHALLENGE!
The mutations of the above protein can be classified as which type of
mutation? Highlight the best answer choice.
a. Insertion of extra nucleotides
b. Deletion of nucleotides
c. Replacement of one nucleotide with a different one
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