title: [TSH receptor double mutation in functional autonomic thyroid nodule].
abstract: TSH receptor stimulating antibodies (TSAb) are well known in the pathogenesis of Graves' disease. Recently mutations in the DNA coding for the TSH-receptor (TSHR) have been revealed in autonomously functioning thyroid nodules (AFTN). In this study we looked for mutations in 9 patients with AFTN. DNA was extracted separately from the nodules and the paranodular thyroid tissues. A fragment of the TSHR gene (bp 1762-1976) was amplified by PCR. The amplified DNA was digested with Hph I, Taq I, Kpn I and Eco RI, respectively, and the resulting fragments were analyzed by gel electrophoresis. Mutations were detected in the nodules of 3 of the 9 patients. In the nodules of 2 patients we found simultaneous mutations affecting the restriction sites of Hph I and Taq I. In the 3rd patient a mutation affecting the restriction site of Hph I was observed. The simultaneous occurrance of TSHR-mutations altering Hph I (Position 631) and Taq I (position 632) restriction sites in AFTN have not been described so far.
authors.affiliation: Internen Abteilung des Krankenhauses des Barmherzigen Brüder Graz-Eggenberg.
authors.forename: G
authors.initials: G
authors.lastname: Semlitsch
authors.forename: G
authors.initials: G
authors.lastname: Höfler
authors.forename: W
authors.initials: W
authors.lastname: Langsteger
authors.forename: S
authors.initials: S
authors.lastname: Lax
authors.forename: K
authors.initials: K
authors.lastname: Zatloukal
authors.forename: A
authors.initials: A
authors.lastname: Berger
authors.forename: O
authors.initials: O
authors.lastname: Eber
mesh_terms: D000236:Adenoma / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006111:Graves Disease / Q000235:genetics*; D006801:Humans; D006980:Hyperthyroidism / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics*; D016606:Thyroid Nodule / Q000235:genetics*
chemical_list: D011989:Receptors, Thyrotropin