Detection of mutations in glycoprotein hormone receptors

The luteinizing, follicle-stimulating, and thyroid-stimulating hormone rece ptors belong to the huge family of G-protein-coupled receptors. Identificat ion of either activating or inactivating mutations of these receptors has l ed to a fundamental improvement in our understanding of glycoprotein hormon e/receptor interaction. Furthermore, clinical phenotypes such as precocious puberty, follicle-stimulating hormone (FSH) insensitivity syndrome, and co ngenital hypthyroidism are now being explained by mutated glycoprotein horm one receptors. Since there is an ongoing worldwide search for certain clini cal phenotypes that might be caused by mutations of these receptors, there is a demand for strategies and techniques that can be used to screen patien ts in a effective and reliable way. This article focuses, therefore, on pat ient selection and techniques for the detection of mutations of glycoprotei n hormone receptors, and compiles useful laboratory protocols to conduct su ch studies. (C) 2000 Academic Press.