Analysis of the TSH receptor gene structure in Graves' disease by a restriction fragment length polymorphism (RFLP) study
Monden, T.; Yamada, M.; Mori, M.
Nihon Rinsho. Japanese Journal of Clinical Medicine 52(4): 1052-1056
1994
ISSN/ISBN: 0047-1852 PMID: 7910860 Document Number: 426233
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.