Mutation analysis of the growth differentiation factor-9 and-9B genes in patients with premature ovarian failure and polycystic ovary syndrome

Objectives: To investigate whether growth differentiation factor (GDF)-9 or GDF-9B/bone morphogenetic protein (BMP)-15 mutation is present in Japanese women with premature ovarian failure (POF) and polycystic ovary syndrome (PCOS). Design: Clinical and molecular studies. Setting: Outpatient clinic in a university hospital. Patient(s): Fifteen women with POF, 38 women with PCOS, and 3 normal fertile controls. Intervention(s): Extraction of DNA from blood samples for subsequent polymerase chain reaction (PCR). Main Outcome Measure(s): Amplified DNA was analyzed by denaturing gradient gel electrophoresis (DGGE) and/or by direct sequencing. Result(s): No missense mutation was found in any exons of the GDF-9 gene and the GDF-9B/BMP-15 gene in patients with POF and PCOS. Conclusion(s): The missense mutation in the GDF-9 gene or the GDF-9B/BMP-15 gene is uncommon in anovulatory Japanese women with POF and PCOS. (C) 2000 by American Society for Reproductive Medicine.