Mutational analysis of the PTEN gene in women with premature ovarian failure.
Recent studies in mammals have suggested that the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) - phosphatidylinositol-3, 4, 5-trisphosphate pathway in oocytes might be related to the pathogenesis of premature ovarian failure (POF). The aim of this study was to investigate whether mutations of the PTEN gene are present in women with POF. We analyzed the coding region of the PTEN gene in 20 women with idiopathic POF and 20 normal controls. The PTEN gene was amplified by the polymerase chain reaction using genomic DNA isolated from blood samples. Amplified DNA was analyzed by denaturing gradient gel electrophoresis and direct sequencing. No causative mutation was detected in the coding regions of this gene. Although we found a point variation in exon 7 of one POF patient, this was a single nucleotide polymorphism that has already been reported.
Shimizu
Yoshihiko
Y
Department of Obstetrics and Gynecology, Shiga University of Medical Science, Setatsukinowa-cho, Ohtsu, Shiga, Japan. oshimi@belle.shiga-med.ac.jp
Kimura
Fuminori
F
Takebayashi
Koichi
K
Fujiwara
Mutsuko
M
Takakura
Kenji
K
Takahashi
Kentaro
K
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human