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.