Assessment Notification
SCBG001
Cell Biology and Genetics (SCBG 001)
ASSESSMENT TASK: GENE EXPRESSION - A FLOW CHART
Subject Coordinator: Sonia Carne
Task: Gene Expression: A Flow Chart
Weight: 10%
Deadline: 7th January at 5pm
(Week 11, Monday)
TASK DESCRIPTION:
This task involves the preparation of a flow chart that describes how diseases are linked to gene expression. You will need to explain in detail how a gene mutation manifests itself in a disease. Your research shall be presented as a flow chart and submitted by Turnitin in Week 11.
RESEARCH TOPICS
Each student is to choose from one of the following topics:
1. Adenosine deaminase (ADA) deficiency
2. Neurofibromatosis Type 1
3. Alpha-1 Antitrypsin Deficiency
4. Phenylketonuria
5. Galactosemia
6. Pachyonychia Congenita
7. Maple Syrup Urine Disease (MSUD)
8. Smith-Lemli-Opitz Syndrome
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FORMAT OF THE FLOW CHART
Each student is to prepare a flow chart that describes your research topic. The following elements must be addressed:
1. A detailed description of the mechanism of gene expression for this disease. This needs to include transcriptional and translational aspects (70% of the content).
Issues to be addressed include (but are not exclusive to):
• What chromosome and position (locus) does the disease affect?
• What type of gene mutation is it? (i.e. duplication, deletion, insertion or inversion) • Is it a sex-linked disease?
• What is the actual genetic mutation and how does it specifically affect the DNA and mRNA sequence?
• How does it affect the amino acid sequence and protein structure? (refer to Topic 2C – Proteins for hints)
• How does it affect protein or enzyme function? (refer to Topic 2C – Proteins for hints)
2. A brief description of the disease and treatment options (20% of the content).
• List two main symptoms of the disease.
• Briefly describe current treatments.
• Does genetic engineering offer alternative treatments for the future?
3. The flow chart must be digitally generated (not hand drawn).
This can be done using Excel, PowerPoint, Lucidchart or any software of choice. There are multiple free software options available online. While a hand drawn sketch is recommended as a draft, such hand drawn sketch coupled with a screen shot photo will not suffice in your digitally generated flow chart.
4. It must be submitted via Turnitin before 7th January 2019 at 5pm (Week 11, Monday). The flow chart must be submitted as a PDF.
5. It must include at least three references written in the UTS Harvard Style. (10% of the content)
This assignment will require sufficiently more depth and research than what is offered via ‘wikipedia’. Significant research will be required, using journal articles and the UTS library. A useful website to start would be, the ‘National Centre for Biotechnology Information (NCBI).
https://www.ncbi.nlm.nih.gov/
The type of references and how well they are cited will be assessed.
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Assessment Rubric
Fail Pass Credit Distinction High Distinction
Detailed description of gene expression
(70% of grade)
• Most aspects of gene expression are omitted.
• The flow chart lacks structure and is difficult to interpret.
• The flow chart is hand drawn
• Some aspects of gene expression are discussed.
• The flow chart may lack structure and be difficult to interpret.
• The flow chart is digitally prepared
• Most aspects of gene expression are discussed.
• The flow chart has sound structure but may be difficult to follow.
• The flow chart is digitally prepared
• All aspects of gene expression are discussed.
• The flow chart has sound structure but may be difficult to follow.
• The flow chart is digitally prepared
• All aspects of gene expression for the disease are thoroughly addressed.
• The flow chart is detailed, has an orderly structure and is easy to interpret. • The flow chart is professionally prepared and has significant attention to detail.
Symptoms and Treatments
of the Disease (20% of grade)
• Two main symptoms for
the disease are not listed.
• Current treatment options are not examined.
• Possible future treatments, as related to genetic engineering are not discussed. • At least one main symptom for the disease is listed.
• Current treatment options are not examined.
• Possible future treatments, as related to genetic engineering are not discussed. • At least one main symptom for the disease is listed.
• Current treatment options are examined.
• Possible future treatments, as related to genetic engineering are not discussed.
• Two main symptoms for the disease are listed.
• Current treatment options are examined.
• Possible future treatments, as related to genetic engineering are not discussed.
• Two main symptoms for the disease are listed.
• Current treatment options are examined.
• Possible future treatments, as related to genetic engineering are discussed.
References
(10% of grade) • Insufficient references are provided
• References are of a poor academic quality
• References are not cited using the UTS Harvard
Referencing Style • A sufficient list of references is provided
• References are of a poor academic quality
• References are not cited using the UTS Harvard Referencing Style
• A sufficient list of references is provided
• References are of a reasonable academic quality
• References are cited with reasonable accordance to
the UTS Harvard Referencing Style
• A comprehensive list of references is provided
• References are of a reasonable academic quality
• References are accurately cited using the UTS Harvard Referencing Style
• A comprehensive list of references is provided
• References are of a high academic quality
• References are accurately cited using the UTS Harvard Referencing
Style
1