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


METHODS
Clinical and molecular studies.


METHODS
Outpatient clinic in a university hospital.


METHODS
Fifteen women with POF, 38 women with PCOS, and 3 normal fertile controls.


METHODS
Extraction of DNA from blood samples for subsequent polymerase chain reaction (PCR).


METHODS
Amplified DNA was analyzed by denaturing gradient gel electrophoresis (DGGE) and/or by direct sequencing.


RESULTS
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.


CONCLUSIONS
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.
Takebayashi
K
K
Department of Obstetrics and Gynecology, Shiga University of Medical Science, Otsu, Japan.
Takakura
K
K
Wang
H
H
Kimura
F
F
Kasahara
K
K
Noda
Y
Y
D000328:Adult; D055430:Bone Morphogenetic Protein 15; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D055429:Growth Differentiation Factor 9; D006133:Growth Substances / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D007564:Japan; D020125:Mutation, Missense; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D012016:Reference Values
C525901:BMP15 protein, human; D055430:Bone Morphogenetic Protein 15; C525897:GDF9 protein, human; D055429:Growth Differentiation Factor 9; D006133:Growth Substances; D036341:Intercellular Signaling Peptides and Proteins