BMS4003 Genetics Semester 2 Assessment Brief | BCU

Assessment 1 

Coursework, Essay, 1500 Words

Weighting 50%

Submission Date: Monday, 17 March 2025 at 3 pm

Assessment Title: The Molecular Biology of Genetic Disorders

Assessment Task

Write an essay on the role of gene mutations, inheritance patterns, and evolutionary advantages in one genetic disorder from the list below. 

Your responses must be written in scientific language, structured into clear paragraphs, and supported by evidence from reliable gene databases (e.g., NCBI Gene, Ensembl, OMIM) and academic sources.

Guidance

Your essay should include the following content (You can choose to structure the essay using these subheadings): 

1. Gene and Genetic Mutation

What is a gene, and why is it important?

• Define a gene and explain its role in coding for proteins through transcription and translation.
• Discuss how genes contribute to cellular and physiological functions.

Describe the gene associated with your chosen disorder.

• Include the gene’s full name and abbreviation.
• Explain its structure (e.g., exons, introns, mrna length) and the normal function of the protein it encodes.

How do mutations in this gene lead to the disorder?

• Identify the types of mutations commonly associated with the disorder (e.g., missense, nonsense, deletions, insertions).
• Explain how these mutations alter the protein’s function and link them to the disorder’s symptoms.

2. Inheritance Patterns

How is the disorder inherited?

• Explain the inheritance pattern (e.g., autosomal recessive, autosomal dominant, X-linked) using precise terminology.
• Discuss the roles of alleles and carriers, using examples to illustrate inheritance probabilities.

What complexities exist in the inheritance pattern?

• Address variations such as compound heterozygosity or multi-class mutations.
• Explain how these variations influence inheritance or disease presentation.

3. Population Frequency and Heterozygote Advantage

How common is the disorder in different populations?

• Define key terms such as prevalence and carrier frequency.
• Provide prevalence and carrier frequency data, supported by evidence.
• Discuss factors affecting prevalence, such as consanguinity, genetic drift, and founder effects.

Does the disorder confer a heterozygote advantage?

• Define heterozygote advantage and explain how it works.
• If applicable, describe how heterozygosity offers protection against certain diseases, including the mechanisms involved (e.g., resistance to malaria in sickle cell carriers).
• Use evidence and examples to support your explanation.

4. Academic Writing and Presentation Skills

• Write in clear, concise scientific language. Avoid casual or descriptive language and use appropriate scientific terminology.
• Structure your answers logically. Use paragraphs to address each part of the question. Ensure the flow between sections is clear.
• Support your answers with evidence. Incorporate relevant figures (e.g., inheritance patterns), label them appropriately, and reference them within your text.
• Use correct referencing. Include in-text citations and a reference list formatted in the BCU-Harvard style.

Submission Details

Complete and submit your assignment in Cadmus.
Ensure all responses are written in paragraphs and adhere to the overall word count of 1500 words (+/-10%).

Assessment Support

• Lectures and Workshops will guide in describing genes, explaining inheritance patterns, and interpreting population genetics data.
• Example essays and resources will be available on Moodle to demonstrate expectations and structure.
• Example essays and the level 4 marking rubric will be used in workshops to allow students to reflect upon their own draft assignment work.
• Peer Navigators will run assignment support sessions

Assessment 2 

Coursework, Data Analysis, 1500 Words

50%

Submission Date: Monday, 05 May 2025 at 3 pm

Assessment Title:  Sex Determination Using Molecular Biology Techniques
 
Assessment Task

In this assignment, you will analyse data from a laboratory experiment to determine the sex of an unknown sample. You will also evaluate the reliability of the Amelogenin gene in sex determination.  

Part 1: The Amelogenin Gene

Provide a detailed description of the Amelogenin gene.

• Where are the AMELX and AMELY genes located in the genome?
• What are the key structural components of these genes, including exons and introns?
• How do AMELX and AMELY differ in size and sequence?

Part 2: Molecular Biology Techniques

Restriction Digestion

Explain how the technique works. Include annotated diagrams to support your explanation. 

• Outline the role of each of the reagents.
• What is the purpose of restriction digestion in this experiment?
• Which restriction enzyme was used, and why was it chosen?
• What are the expected sizes of the restriction fragments for AMELX and AMELY genes? Explain the differences.
• Figures should have figure legends, and your sources should be properly cited. 

Polymerase Chain Reaction (PCR)

Explain how the technique works. Include annotated diagrams to support your explanation.  

• Outline the role of each of the reagents.
• What is the role of PCR in amplifying the Amelogenin gene?
• What are the expected PCR product sizes for AMELX and AMELY? Explain why they differ.
• Figures should have figure legends, and your sources should be properly cited. 

Gel Electrophoresis

Illustrate and explain how the technique works using diagrams.

• Outline the role of each of the reagents.
• How does gel electrophoresis help visualise DNA fragments?
• Which dye was used?
• Why is a DNA ladder included in the gel?
• What is the purpose of the negative control?
• Figures should have figure legends, and your sources should be properly cited. 

Part 3: Data Analysis

Using the provided gel image: 

• Measure the migration distances of the DNA ladder bands and plot a standard curve using Excel or using semi-log graph paper.
• Determine the fragment sizes for the male, female, and unknown samples based on the standard curve.
• Identify the sex of the unknown sample and explain your reasoning.
• Insert your graph into your assignment, ensuring that it has been correctly formatted. 

Part 4: Application and Limitations

Answer the following:

• What are the limitations of using the Amelogenin gene for sex determination? Provide one example where this method might not be reliable.
• How could combining techniques (e.g., Amelogenin and SRY gene analysis) improve accuracy?

Submission Details

Complete and submit your assignment in Cadmus. 
Ensure all responses are written in paragraphs and adhere to the overall word count of 1500 words (+/-10%).

Assessment Support

• Lectures, Workshops and Laboratory sessions will guide molecular biology techniques and interpreting gels by drawing graphs using semi-log graph paper.
• Example assignments and resources will be available on Moodle to demonstrate expectations and structure.
• Example assignments and the level 4 marking rubric will be used in workshops to allow students to reflect upon their own draft assignment work.
• Peer Navigators will run assignments and support tutorials.