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.