Genetic studies on human thyroxine-binding globulin (TBG).
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.
Luckenbach
C
C
Institut für Anthropologie und Humangenetik der Universität, Tubingen, Federal Republic of Germany.
Kömpf
J
J
Ritter
H
H
D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013975:Thyroxine-Binding Proteins / Q000235:genetics*
D013975:Thyroxine-Binding Proteins