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Journal of Clinical Endocrinology & Metabolism Vol. 73, No. 6 1374-1376
doi:10.1210/jcem-73-6-1374
Copyright © 1991 by the Endocrine Society.
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A SOMATIC POINT MUTATION IN A PUTATIVE LIGAND BINDING DOMAIN OF THE TSH RECEPTOR IN A PATIENT WITH AUTOIMMUNE HYPERTHYROIDISM

Nils-Erik Heldin1, Bengt Gustavsson1, Kerstin Westermark2 and Bengt Westermark1

Department of Pathology, University Hospital S-751 85 Uppsala, Sweden
Department of Medicine, University Hospital S-751 85 Uppsala, Sweden

Nucleotide sequence analysis of PCR fragments of TSH receptor cDNA synthesized from thyroid RNA of a patient with autoimmune hyperthyroidism, revealed two different sequences in the first position of codon 36. In one of the sequences, there was a C for G substitution leading to the D36 -> H substitution in the predicted peptide. Both variants were also found in genomic DNA of thyroid tissue. However, only the germ line sequence was found in other tissues representing all three different germ layers. The novel sequence is therefore likely to represent a somatic mutation in the thyroid tissue, of possible relevance for the pathogenesis of the patient's thyroid disorder.




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Copyright © 1991 by The Endocrine Society