[Analysis of the TSH receptor gene structure in Graves' disease by a restriction fragment length polymorphism (RFLP)...

We examined the structure of the TSH receptor gene in thyroid disorders, particularly in Graves' disease by a RFLP study with a cloned human TSH receptor cDNA as a probe. Southern blot analysis indicated that the TSH receptor gene is a single copy gene in the human genome. Although RFLPs were not detected in peripheral blood cells and thyroid tissues in patient with Graves' disease, significant RFLPs were found in 2 of 6 patients with adenoma. We conclude that there are no major abnormalities in the structure of the TSH receptor gene in patients with Graves' disease, and that DNA from thyroid adenomas can have large insertions or deletions.