Genetics Assessment 2
Summative assessment will be via a written report on a human gene /genetic condition. This report should be around 3-4 pages.
Formative feedback will be available on the information collected
Information & Sequence retrieval exercise
In order to start collecting information, the first place is NCBI
https://www.ncbi.nlm.nih.gov/
I would recommend that you use a tool like padlet (www.padlet.com) in order to collate the information you find.
1. Go to NCBI web site
2. Type your gene name from the spreadsheet into the search box, and enter
3. In the results, click on Gene results, then select the human gene.
4. From the gene page and the links to the reference sequences find the following information
Full gene name
Chromosomal location
There may be a short description, which may include the function of the protein, what tissue it is expressed in, and whether it causes any disease.
There may be a link to pubmed – take a look at the number and range of articles
See if you can determine the number of exons/size of the gene.
Is there any evidence of alternative splicing?
Accession Number for the mRNA sequence (just 1 if multiple isoforms)
Accession number for the protein sequence (just 1 if multiple isoforms)
Size of mRNA transcript
Size of the protein (number of amino acids)
Go back to the search results and look for the OMIM results link – this will take you to pages about the gene, and also of any diseases – have a look at that information.
1. What can you determine about the disease, and how does that relate to the function of the protein/tissues it is expressed in
Is there an animal model for this disease? Find the gene page for the mouse homolog of your gene. You can also look at the Mouse Genome Informatics Database at the Jackson Laboratory
