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Analysis of genetic variation in two human thyroxine‐binding plasma proteins by immunodetection after isoelectric focusing
Author(s) -
WHITEHOUSE D. B.,
HOPKINSON D. A.,
HILL A. V. S.,
BOWDEN D. K.
Publication year - 1985
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1985.tb01701.x
Subject(s) - isoelectric focusing , thyroxine binding globulin , thyroxine binding proteins , transthyretin , population , globulin , biology , blood proteins , human plasma , glycosylation , polyacrylamide gel electrophoresis , genetic variants , genetic variation , genetics , chemistry , biochemistry , endocrinology , chromatography , gene , medicine , thyroid , genotype , environmental health , triiodothyronine , enzyme
Summary An immunological method for the detection of two thyroxine‐binding plasma proteins, thyroxine‐binding globulin (TBG) and thyroxine‐binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post‐translational glycosylation, which are affected by unfavourable conditions of sample storage. No genetic variants of TBG or TBPA were encountered in a study of N. European individuals ( n = 50). The X‐linked TBG polymorphism, previously detected using a radiolabelled ligand binding technique in Pacific Islanders, was, however, demonstrable by our new immunological method in a previously untested population ( n = 139) from the island of Maewo in Vanuatu.