SBU3023 Biology II Assignment

A Genetic Disorder
Date Assigned: 6/3/2015
Submission Deadline: 2/4/2015
Your Task:

Prepare an essay on two of the following genetic disorders.

Cystic fibrosis
Albinism
Sickle cell anaemia
Tay Sachs Disease
Phenylketonuria
Thalassemia
Haemophilia
Incontinentia pigmenti
Familial Breast Cancer
Duchenne Muscular Dystrophy

Huntingtons disease
Neurofibromatosis (1)
Mar Fans Syndrome
Polydactyly
Achondroplasia
Brachydactly
Ichthyosis
Galactosaemia
SCIDS
Osteogenesis imperfecta

Cri Du Chat
Downs Syndrome
Turners Syndrome
Kleinfelters Syndrome
Patau Syndrome
Edward Syndrome
Familial Alzheimer Disease
Cleft Palate
Fragile X Syndrome
Color Vision Defect

Assessment: Your essay writing should be divided into the following sections. Each of
these will be one of the assessment criteria by which the task will be graded.
Section 1

Name of diseases (2 marks)

Frequency of the diseases in population, are the diseases more common in a
particular community? (2-3 marks)
Symptoms of the disease, you may include some pictures or diagrams to
illustrate the diseases (3-5 marks)

Section 2

Genetics of the diseases - how is it inherited, dominant or recessive,

chromosomal disorder or is it due to a random mutation (4-5 marks)
Is the location of the gene known? (2 marks)
You may include a pedigree to explain the mode of inheritance (3-4 marks)

Section 3

What type of tests can be done to identify the diseases? CVS,

amniocentesis, others? (3-4 marks)
Prognosis likely outcome for people with this diseases, how long will they
live, what will the quality of their life be like (3-4 marks)
Possible treatments for those with the conditions (3-4 marks)

Section 4

Bibliography, must contain at least 3 different sources of reference

(3 -5 marks)
All sources must be references using the correct conventions (example of
citation style : APA, author-date, numbered). (2-3 marks)

Section 5

Correct and appropriate use of scientific language (4-5 marks)

Presentation is neat and logically organised. (3 4 marks)

Total mark: 50