Abstract
Using new ultrasensitive assays to measure autoantibodies to thyroid peroxidase (TPO) and thyroglobulin (Tg) in the sera of families with autoimmune thyroid disease, it was recently demonstrated that the inheritance of TPO and Tg autoantibodies was consistent with Mendelian inheritance [1]. The tendency to produce TPO and Tg autoantibodies appeared to be inherited as an autosomal dominant trait fully penetrant in women but with reduced penetrance in men, and therefore a genetic linkage analysis with 28 polymorphic serological markers (located on different chromosomes) was carried out. The analysis revealed that several loci, notably the HLA antigens -A, -B, -DR, -DQ, as well as Bf on chromosome 6, could be excluded while markers for other loci (such as the immunoglobulin heavy chain marker Gm on chromosome 14) were uninformative [2]. However, there was a suggestion of weak linkage between the blood group Kell and TPO autoantibody. Kell has been reported to be linked to the locus governing the ability to taste phenylthiocarbamide (PTC) [3] which in turn may be associated with certain forms of thyroid disease [4]. In order to explore further the genetic basis of autoimmune thyroid disease, the study was extended, using a larger group of families, to determine whether autoimmune thyroid disease, Kell and PTC tasting are linked.
This work was supported in part by the Wellcome Trust and by the Area Health Authority, Newcastle upon Tyne.
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References
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© 1991 Springer-Verlag Berlin Heidelberg
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Lo, S. et al. (1991). A Search for Linkage Between Phenylthiocarbamide Tasting, the Kell Blood Group Locus and Autoantibodies to Thyroglobulin and Thyroid Peroxidase. In: Scherbaum, W.A., Bogner, U., Weinheimer, B., Bottazzo, G.F. (eds) Autoimmune Thyroiditis. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-76301-4_5
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DOI: https://doi.org/10.1007/978-3-642-76301-4_5
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