NO EVIDENCE OF THE INACTIVATING MUTATION (C566T) IN THE FOLLICLE-STIMULATING-HORMONE RECEPTOR GENE IN BRAZILIAN WOMEN WITH PREMATURE OVARIAN FAILURE

Objective: To investigate the presence of FSH receptor gene mutations in women with premature ovarian failure (POF). Design: Clinical and mo lecular studies. Setting: Research laboratory in a university setting. Patient(s): Fifteen 46,XX women with POF and 42 normal fertile contro ls. Intervention(s): Exon 7 was amplified and digested with Bsml to sc reen 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 reac tion followed by restriction enzyme analysis, denaturing gradient gel electrophoresis, and direct sequencing. Result(s): No inactivating mut ations were identified in exons 7 and 10 of the FSH receptor gene in w omen with familial or sporadic POF. Exon 10 had two polymorphisms, G91 9A and G2039A, whose allelic frequencies were 46.7% and 56.6%, respect ively, in women with POF. The allelic frequency of both polymorphisms was 59.5% in normal fertile controls. Conclusion(s): No inactivating m utations in exons 7 and 10 of the FSK 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. (Fert il Steril(R) 1998;70:565-7. (C) 1998 by American Society for Reproduct ive Medicine.).