Select a clinical problem with a genetic component (i.e. Insulin Dependent Diabetes Mellitus Type I and HLA-DQ) in your area of interest. You can pick an existing paradigm or be creative and speculative. Just pick a gene or loci that has clinical impact for either diagnostic or prognostic reasons.
Here are web sites that might help:
http://www.ncbi.nlm.nih.gov/ or http://gdbwww.gdb.org/gdb/
You need to prepare a report on this focal problem that includes the following:
1) Clinical background. The clinical impact in terms of disease processes, current conventional laboratory methodologies used and the need for genetic testing (i.e. what is the appropriate use of the test in the clinical setting). Two to three paragraphs should be sufficient.
2) Genetic code. A print out of the nucleic acid sequence including polymorphic sites. Whatever it takes. It is assumed that if the region of interest is only 300bp you don’t provide 64000bp, but if it takes 3400bp to support your test, go for it. Annotate with where primers, enzyme cutting sites, probes, etc. are located on the sequence.
3) Generate two testing protocols. Include all reagents, the concentrations they are used at and their source. Real reagents here, no imaginary enzymes. Include controls and a diagram of expected results, be inclusive of all possible phenotypes stated in 2. Two pages maximum. One of the protocols can be a published, existing method. Alter it to make the second one.
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