Subject Code & Title :- 11732 FIDE Final
Assessment Type :- Assignment
1.This assignment addresses the following learning outcomes and skills:
Learning outcomes :-
1.Interpret explain and apply knowledge of genetics and epigenetics to mutation natural selection and evolution;
2.Describe genetic and environmental influence in human disease;
3. Acquire knowledge and understanding and apply these to real life case studies and
4. Draw justified conclusions from data and reflecting on the underlying biological principles.
11732 FIDE Final Assignment
Skills development :-
In this assignment students will demonstrate critical thinking skills an ability to solve complex problems written communication skills your spoken communication skills and a number of work-ready knowledge and skills.
Instructions :-
1. Complete all questions.
2.Marks for each part of the question are indicated in the relevant part. The marks indicate the depth required for each question.
3.Use in-text Harvard Style referencing and include a reference list at the end of each question. Include at least 5 references per question which must be peer-reviewed journal articles and/or tertiary institutions and government sites. You do not need to cite the resources given to you.
11732 FIDE Final Assignment
Questions
1.Multifactorial Disease: Asthma
Asthma is an inflammatory disease of the bronchi that lead to the lungs. It is a multi factorial disease and it displays variable expressivity.
a. Define expressivity and variable expressivity. How are these different from complete and incomplete penetrance?
b. Among the many candidate genes for asthma expressivity is ADAM33.
i. What is the role of this gene? (1 mark)
ii. Speculate how mutations in this gene could impact severity of asthma.
c. Epistasis is also thought to play a role in asthma.
i. Define epistasis
ii. Research the potential role of epistasis in asthma. Write a 200-300 word critical review (ie discuss strengths and limitations of one article which addresses this topic.
d. There are many environmental factors which affect the phenotype in asthma.
i. What do you think would be the most common physiological effect of these environmental factors? (1 mark)
ii. How does this effect lead to narrowing of the bronchi? (1 mark)
iii. Populate the table below with at least three examples in each category:
iv. Speculate as to which of the above categories of environment would be the most common factor in fluencing asthma on a global scale. Justify your answer there is no right or wrong answer you will be assessed on your strength of argument).
2.Epigenetics
a. Watch these two YouTube videos an interview with Prof Randy Jirtle and a review and case studies presented by Dr Susan Bush and read associated articles on the effect of maternal care (abstract only) and diet supplementation. Answer the questions below.
i. Define epigenetics, including definitions of epigenetic mechanisms.
ii. In the context of epigenetics what are writers readers and erasers? For each category, name one enzyme and explain how it affects gene regulation. (6 marks)
iii. Using a case study presented by Susan Bush, demonstrate your under standing of how epigenetics involving expression of the agouti gene can lead to a predisposition towards diabetes. Include the role of diet in altering the epigenetics in this case study
11732 FIDE Final Assignment
3.Cancer
a. Describe the micro environment of a tumour. Include the cell types and oxygen levels and how this microenvironment contributes to tumour growth.
b. What is the role of stem cells in tumour progression? Speculate on why the presence of stem cells inhibits cancer treatments.
c. Evaluate Salmonella as an agent for treatment of cancer
Include in your answer:
i. Virulence factors
ii. Properties that enable them to infiltrate the microenvironment
iii. SPIs and effector proteins
iv. Benefits vs risks
v. Use at least two journal articles as justification for your evaluation.
4.Data Analysis
a. i. What is Acute Lymphoblastic Leukaemia (ALL)?
ii. Use the COSMIC site to identify a gene that is commonly mutated to cause ALL ensure that you spell it as it is written above when searching. What is the normal role of this gene and how does mutation lead to cancer?
iii. What is a modifier gene? (2 marks)
iv. Use the PhenoModifier site to identify an epigenetic modifier gene implicated in ALL (this time spell it Acute Lymphocytic Leukemia ��).
Name and state the normal role of this gene. (2 marks) UPDATE: It appears that the PhenoModifier site is again experiencing difficulties. Therefore please use DisGeNET and search for Acute Lymphocytic Leukemia. Click on the ‘Summary of Gene-Disease Associations’ tab. Scroll down the list for a methyl transferase gene.
v. Choose a journal article which reported this modifier gene. Evaluate the strength of argument presented in this article.
b. ALL is treated with the thiopurine class of drugs for example Clopidogrel.
This drug is delivered as a prodrug, converted to active form, and then inactivated.
Prodrug —–> Drug ——>Inactive drug
enzyme A enzyme I (TPMT)
Clopidogrel is toxic, therefore it is important to be inactivated to reduce side-effects.
a. What is TPMT? What type of enzyme is TPMT (refer to 2Aii)? What is the role of TPMT?
b. How does the mode of action of TPMT specifically impact the activity of Clopidogrel?
c. Why is this action a form of epigenetics?
11732 FIDE Final Assignment
d. Individuals with _ TPMT activity would show _ active drug metabolite levels, leading to toxicity.
A) low, low
B) high, high
C) low, high
D) high, no change
e. Common mutations of TPMT are as follows:
The table below displays how mutations in TPMT affect its enzymatic activity.
f. Which mutation appears to be more important for the change in degradation, exon VII or exon X?
g. A patient has been diagnosed with the TPMT* 3A gene. Their deterioration following treatment is due to:
A) Decreased TPMT activity due to increased enzyme degradation.
B) Decreased TPMT activity due to decreased enzyme formation.
C) Decreased TPMT activity due to decreased enzyme degradation.
D) Increased TPMT activity due to increased enzyme formation.
h. Effective treatment of this individual would require:
A) Increased dose of Clopidogrel
B) Decreased dose of Clopidogrel
C) No change in dose of Clopidogrel
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