Hereditary complete thyroxine-binding globulin deficiency: identification by T3 resin uptake test and DNA analysis.
Complete thyroxine-binding globulin deficiency (TBG-CD) was uncovered in a subject receiving a comprehensive health examination. The subject had an abnormally high T3 resin uptake. A family study showed that the TBG abnormality had been inherited by X-chromosome linkage. Genetic analysis revealed single nucleotide deletion, common among Japanese with TBG-CD, from the allele specific amplification of the TBG genes of the family.
Noguchi
T
T
Sakuragaoka Hospitel, Hyogo, Japan.
Yamamori
I
I
Takamatsu
J
J
Nakajima
T
T
Mori
Y
Y
Kumahara
Y
Y
D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017384:Sequence Deletion; D013963:Thyroid Hormones / Q000097:blood; D013975:Thyroxine-Binding Proteins / Q000172:deficiency* / Q000235:genetics*; D014284:Triiodothyronine / Q000493:pharmacokinetics; D014960:X Chromosome
D013963:Thyroid Hormones; D013975:Thyroxine-Binding Proteins; D014284:Triiodothyronine