Question

In patient 3, a transposon inserted itself into exon 3 of the phosphodiesterase. (1) what molecular biology technique will you use to identify this issue {You can’t use the same technique more than once so check them all first to make sure you divide up the techniques correctly!}, (2) will you be analyzing RNA, DNA, or protein for this technique, (3) what tissue or organ will you isolate for this technique and (4) why are you using this tissue or organ (remember we want to be the least invasive as possible), (5) What will you use as a control for comparison to your patient’s tissue, (6) what are your internal controls for this technique so that you can believe your results, (7) explain the specifics of the probe, primer, or antibodies that will be used in the technique, (8)draw a picture of what your patient and control results will look like, and (9) explain your results. (10) hypothesize what this mutation might be doing that would cause this tumor.

The pathway for regulating cellular metabolism includes multiple organs and hormones. The process starts when the hypothalamus releases Thyroid releasing hormone (TRH), which goes to the anterior pituitary and stimulates the release of Thyroid stimulating hormone (TSH). TSH leaves the anterior pituitary and travels through the blood to the thyroid gland. The TSH stimulates follicle cells in the thyroid gland to proliferate and release the hormone T4, which regulates cellular metabolism in the body.

TSH acts on follicle cells by binding the TSH-receptor, which in turn activates the cAMP second messenger system and mediates the effects of TSH. The cAMP second messenger system starts off with a hormone binding to its receptor. Once this occurs, a G-protein is activated by switching a GDP for a GTP. The G-protein then goes and activates the enzyme adenylate cyclase, which converts ATP to cAMP. cAMP then activates protein kinases inside the cell. The cAMP is degraded by the enzyme phosphodiesterase. Over-activation of this pathway has been shown to cause thyroid tumors in some patients. We have several patients with thyroid tumors and want to determine the specific cause of the cancer. We test each of the patient’s tumors and get the results described below.

Answer 1