Genetics 302 - Winter 2012 - Assignment 1
Mutations due to Alu transposable elements
Due Friday January 27 at 9:00 AM
Cozar et al. (2011) Molecular characterization of a new deletion of the GBA1
gene due to an inter Alu recombination event. Molecular Genetics and
Metabolism 102:226-228 PubMed ID: 21036086
You may do this assignment by yourself or in groups of two or three. You may
discuss this assignment with anyone you want but when writing this assignment
only people listed as authors may be present. Your answers must be in your own
words and not paraphrased from the article or from other sources. Cite any
sources used other than the article itself. Your assignment is to be single sided,
use a cover page, and not be enclosed within a folder. You are encouraged to
use neat hand drawn diagrams rather than computer drawn ones. This
assignment is out of 20 marks and is worth 3.5% of your course mark.
Question 1 Make a diagram showing the normal codon and the mutant codon for
the Asn370Ser mutation. If there is more than one possible answer only include
one. Show the template DNA strand, the non-template DNA strand, the mRNA,
and the amino acids. Include the polarity of each molecule (5'---3' or N---C) as
appropriate. (4 marks)
Question 2 With regards to the experiment shown in Figure 1B describe what
Cozar et al. did step by step, why they did it, and the results they obtained.
Answer with a single paragraph. (6 marks)
Question 3 Make a diagram showing how this chromosome rearangement
occurred in meiosis. Start with the meiotic cell in prophase I and end with the
gamete carrying the new mutation. (5 marks)
Question 4 Write a new clicker question that would have fit into lectures 1 - 4. Be
sure to indicate the correct response. (5 marks)