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X-Chromosome-Linked Inheritance of the Variant Thyroxine-Binding Globulin in Australian Aborigines^*

The Thyroid Study Unit, The University of Chicago School of Medicine, Chicago, Illinois 60637

Address all correspondence and requests for reprints to: Samuel Refetoff, M.D., Thyroid Study Unit, Box 138, The University of Chi-cago, 5841 South Maryland Avenue, Chicago, Illinois 60637.

The inheritance of quantitative changes in se-rum T₄-binding globulin (TBG; reduced or elevated serum levels)and electrophoretic variants of TBG have been shown to be X-chromosome linked. However, it recently was suggested that another TBG variant, widely distributed in the Australian Aborigine population, may be inherited as an autosomal dominant trait. This communication deals with studies directed to the elucidation of the mode of inheritance of the Aboriginal variant TBG.

By measuring the rate of denaturation of TBG at 56 C, we identified three distinct types of TBG in Australian Aborigines. One was a relatively heat-stable TBG (mean t58.0 min; range, 68-53 min; group A), indistinguishable from TBG in Caucasians (mean t 55.1 ; range, 67-43); another was a heat-labile TBG (mean t 20. 8 min; range, 23.7-18.4 min; group C); and a third had intermediate values (mean ti 35. 7 min; range, 39.5-30.6 min; group B). Serum samples from the latter group belonged exclusively to women.

Assuming that individuals from group A were homozygous for the Caucasian type TBG (TBG_cc), those from group C were homozygous for the Aboriginal variant of TBG (TBG_AA), and individuals from group B were heterozygous (TBG_CA), gene frequencies were calculated for the product of TBG_c and TBG_A, and the incidence of expected genotypes was compared to that observed. The results are compatible with X-chromosome, but not autosomal, inheritance, with a gene frequency of TBG_c of0.4118 and of TBG_A of 0.5882.

The ability to identify individuals who are heterozygous for the Aboriginal variant TBG confirmed that the structural gene of TBG in man is located on the X-chromosome. (J Clin Endo-crinol Metab 60 : 356, 1985)

^* This work was supported in part by USPHS Grant AM-15070.

Received August 1, 1984.

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