FIG. 1.

(A) Pedigree of the family indicating the genotype of each individual and the results of thyroid function tests, aligned with the symbol representing each family member. (B) Results of THRB locus haplotyping show that the proband and brother inherited the same maternal allele. (C) Sequence of cDNA derived from white blood cells mRNA of the proband, covering the region of the THRB mutation. The location of the primers used in the cDNA amplification is indicated. (D, E) TH responsiveness of the subjects' skin fibroblasts. After culture for 48 hours in medium depleted of TH, fibroblasts were treated with three different amounts of T3, 0.5, 2, and 5 nM, for additional 24 hours. The relative amount of mRNAs, compared with that in fibroblasts cultured in the absence of T3, is given as percentage increase. TH, thyroid hormone; T3, triiodothyronine.