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Genetic variations in human testosterone-estradiol binding globulin

F Larrea¹, C Cariño, D O Hardy

¹Department of Reproductive Biology, Instituto Nacional de la Nutrición Salvador Zubirán, Mexico City, Mexico.

The Journal of Steroid Biochemistry and Molecular Biology

|June 1, 1995

Summary

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Structural variants of human testosterone-estradiol-binding globulin (hTeBG) are inherited. A specific point mutation in the hTeBG gene identified in this study is common worldwide, supporting a two-allele gene model.

Area of Science:

Biochemistry
Genetics
Molecular Biology

Background:

Human testosterone-estradiol-binding globulin (hTeBG) is a heterogeneous glycoprotein involved in steroid hormone binding.
Heterogeneity in hTeBG arises from differential glycosylation of a common protein precursor.

Purpose of the Study:

To investigate the causes of microheterogeneity in desialylated hTeBG.
To identify the genetic basis of observed hTeBG structural variants.

Main Methods:

Isoelectric focusing (IEF) and Western blotting of desialylated serum hTeBG.
Family studies to determine inheritance patterns.
Molecular analysis of hTeBG gene exons using denaturing gradient gel electrophoresis.

Main Results:

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Two distinct IEF patterns of hTeBG were identified, with one rare pattern (4 bands) observed in 5.55% of samples.
Phenotypes demonstrated autosomal Mendelian inheritance.
A point mutation in exon 8 of the hTeBG gene was identified and linked to the structural variants.

Conclusions:

Structural variants of hTeBG exist and are autosomally inherited.
The identified mutation in exon 8 is likely the common worldwide mutation, supporting a two-allele gene model for hTeBG.