Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene.

The thyroid stimulating hormone receptor (TSHR) is the main autoantigen in Graves' disease. Mutations of the TSH receptor have been implicated in various thyroid diseases. In this study, we describe three polymorphic markers localised within introns 2 and 7 of the TSH receptor gene. These markers are useful for the study of genetic diseases involving the TSH receptor. They allowed us to map precisely the TSH receptor gene on chromosome 14q31 between D14S287 and D14S68. We also describe selected primers and experimental conditions for the amplification and direct genomic sequencing of the 10 exons of the receptor gene.