Objective: To investigate the presence of FSH receptor gene mutations in women with premature ovarian failure (POF).
Design: Clinical and molecular studies.
Setting: Research laboratory in a university setting.
Patient(s): Fifteen 46,XX women with POF and 42 normal fertile controls.
Intervention(s): Exon 7 was amplified and digested with BsmI to screen for the previously described inactivating mutation C566T. Exon 10 was screened for mutations by denaturing gradient gel electrophoresis and direct sequencing.
Main outcome measure(s): Polymerase chain reaction followed by restriction enzyme analysis, denaturing gradient gel electrophoresis, and direct sequencing.
Result(s): No inactivating mutations were identified in exons 7 and 10 of the FSH receptor gene in women with familial or sporadic POF. Exon 10 had two polymorphisms, G919A and G2039A, whose allelic frequencies were 46.7% and 56.6%, respectively, in women with POF. The allelic frequency of both polymorphisms was 59.5% in normal fertile controls.
Conclusion(s): No inactivating mutations in exons 7 and 10 of the FSH receptor gene were identified in Brazilian women with POF. A high frequency of two polymorphisms that are in linkage disequilibrium was found in exon 10 of this gene.