Relationship between thyrotropin receptor gene mutation and toxic multinodular goiter / 中华内分泌代谢杂志

ABSTRACT

DNA was extracted from thyroid nodular tissue in 16 patients with toxic multinodular goitor (TMG). After PCR, the product of PCR was sequenced, and 3 cases with point mutation (A1964T) and 2 cases with insertion mutation (a G was inserted after nucleotide 1928) in TSH receptor gene were found. It is postulated that these mutations may play an important role in the pathogenesis of TMG.