Hanamitsu Masakazu, Takeuchi Eiji, Kitanishi Tsuyoshi, Sakurai Hironori, Tanaka Hiroshi, Kitano Hiroya
Department of Otolaryngology, Division of Head and Neck Surgery, Shiga University of Medical Science, Otsu, Japan.
ORL J Otorhinolaryngol Relat Spec. 2002 Jul-Aug;64(4):275-7. doi: 10.1159/000064141.
We describe a toxic multinodular goiter that was subjected to genomic sequencing of the thyroid-stimulating hormone receptor and the alpha-subunit of the stimulatory guanine nucleotide-binding protein. No mutation was detected in either gene. While frequent occurrence of thyroid-stimulating hormone receptor gene mutations in toxic multinodular goiters has been reported in areas such as part of Europe with a relatively high prevalence of iodine deficiency, toxic multinodular goiters in areas with an abundance of dietary iodine such as Japan seem unlikely to involve mutations of this gene.
我们描述了一例毒性多结节性甲状腺肿,对其促甲状腺激素受体和刺激性鸟嘌呤核苷酸结合蛋白的α亚基进行了基因组测序。两个基因均未检测到突变。虽然在欧洲部分碘缺乏患病率相对较高的地区,已有报道称毒性多结节性甲状腺肿中促甲状腺激素受体基因突变频繁发生,但在日本等膳食碘丰富的地区,毒性多结节性甲状腺肿似乎不太可能涉及该基因的突变。