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.
IDDMT1 is a genetic disorder, mainly seen in children below 12 years, where due to destruction of pancreatic beta cells by their own immunity system, their body produce little or no insulin. As a result, blood glucose level gets increased abnormally and consequently glucose appears in subject’s urine. This disease is caused by sudden dispostition of a set of genes, HLA gene family, which are responsible to provide immunity against pathogens, in normal condition.In the article, we have covered etiology of the disease along with a recent case study of a child, suffering fromIDDMT1, symptoms, diagnosis and 2 test protocols which can be used to detect IDDMT1. As this disease cannot be cured completely, the only way to get rid of this disease is to prevent it and take precautions. This is why the diagnosis of the disease at early stage is very important.
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