Analysis of thyroid stimulating hormone-receptor mutations by temperature-gradient gel electrophoresis.
Somatic mutations in the genes for G-protein-coupled receptors which regulate intracellular levels of cyclic AMP have been found in several regions coding for the receptors of melanocyte-stimulating hormone, adrenaline, luteinizing hormone, rhodopsin and thyrotropin. The mutations found in the thyroid-stimulating hormone (TSH) receptor are restricted to cells of hyperfunctioning thyroid adenomas and other thyroid tumors. They are thought to lead to a constitutive activation of the receptor independent of TSH. We have developed a temperature-gradient gel electrophoresis (TGGE) assay starting with the amplification of a part of exon 10 of the TSH-receptor gene to screen tissue of thyroid tumours. TGGE allows the detection of point mutations even if there are only a few cells with somatic mutations in tissue sections.
Koch
M
M
Abt. IV-Endokrinologie und Klinische Chemie, Universität Tübingen.
Wahl
R
R
Seif
F J
FJ
D000236:Adenoma / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013696:Temperature; D013964:Thyroid Neoplasms / Q000235:genetics
D004273:DNA, Neoplasm; D011989:Receptors, Thyrotropin