Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Semlitsch, G; Höfler, G; Langsteger, W; Lax, S; Zatloukal, K; Berger, A; Eber, O.
TSH receptor double mutation in functional autonomic thyroid nodule
Acta Med Austriaca. 1995; 22(4):75-77
Web of Science
PubMed
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- Co-Autor*innen der Med Uni Graz
- Höfler Gerald
- Zatloukal Kurt
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adenoma - genetics
- Adult - genetics
- DNA Mutational Analysis - genetics
- Female - genetics
- Gene Expression - physiology
- Graves Disease - genetics
- Humans - genetics
- Hyperthyroidism - genetics
- Male - genetics
- Middle Aged - genetics
- Receptors, Thyrotropin - genetics
- Thyroid Neoplasms - genetics
- Thyroid Nodule - genetics
- Find related publications in this database (Keywords)
- Thyrotropin Receptor
- Mutations
- Autonomously Functioning Nodules of the Thyroid
- Hyperthyroidism