关于人甲状腺素结合球蛋白（TBG）的遗传学研究。
Genetic studies on human thyroxine-binding globulin (TBG).
作者信息
Luckenbach C, Kömpf J, Ritter H
机构信息
Institut für Anthropologie und Humangenetik der Universität, Tubingen, Federal Republic of Germany.
出版信息
Hum Genet. 1990 Mar;84(4):368-70. doi: 10.1007/BF00196237.
An enzyme immunoassay technique combined with Western blotting is described to demonstrate thyroxine-binding globulin (TBG) by isoelectric focusing in thin-layer polyacrylamide gels with 8 mol/l urea. Quantitative evaluation was by laser densitometry. No genetic charge variants of TBG were encountered in a sample of 840 unrelated individuals from southwestern Germany. There was no correlation between structural and quantitative variations in the TBG protein. Results from a family with quantitative TBG deficiency strongly support the postulated X-linked mode of inheritance. The method described can be considered as an additional diagnostic tool in thyroid evaluation.
本文描述了一种将酶免疫测定技术与蛋白质印迹法相结合的方法，用于在含8摩尔/升尿素的薄层聚丙烯酰胺凝胶中通过等电聚焦来检测甲状腺素结合球蛋白（TBG）。通过激光密度测定法进行定量评估。在来自德国西南部的840名无亲缘关系个体的样本中未发现TBG的基因电荷变异体。TBG蛋白的结构变异与定量变异之间没有相关性。一个患有定量TBG缺乏症的家族的结果有力地支持了假定的X连锁遗传模式。所描述的方法可被视为甲状腺评估中的一种额外诊断工具。
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