Mutation analysis of the gonadotropin-releasing hormone receptor gene in idiopathic hypogonadotropic hypogonadism

Fertility and Sterility
L C LaymanM R Gray

Abstract

To determine if GnRH receptor mutations occur in patients with idiopathic hypogonadotropic hypogonadism. Patients and controls were studied by molecular genetic analysis. A tertiary medical center setting. Twenty-four patients with idiopathic hypogonadotropic hypogonadism and 20 controls. Deoxyribonucleic acid from all individuals was analyzed by Southern blot analysis and denaturing gradient gel electrophoresis. Genomic DNA was digested with restriction enzymes, and Southern blots and denaturing gradient gel blots were constructed. Blots were hybridized with the GnRH receptor complementary DNA probe. The DNA sequencing was performed on samples from two representative patients. Gonadotropin-releasing hormone receptor gene structure was ascertained by comparing fragments from autoradiographs in patients and controls. Individual nucleotides were ascertained from DNA sequencing gels. No GnRH receptor gene deletions or polymorphisms were identified by Southern blot analysis. New restriction-fragment melting polymorphisms using the enzymes DpnII, RsaI, and HaeIII were identified by denaturing gradient gel blots in patients and controls. Gonadotropin-releasing hormone receptor gene deletions or rearrangements were not observed in our...Continue Reading

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Citations

May 11, 2006·Archives of Gynecology and Obstetrics·I MatalliotakisD Panidis
Jan 29, 1999·Endocrinology and Metabolism Clinics of North America·S BhasinB Salehian
Dec 1, 2000·Baillière's Best Practice & Research. Clinical Endocrinology & Metabolism·S BhasinK Ma
Oct 26, 2005·Animal Reproduction Science·C L LinK Wimmers

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