Shimizu Yoshihiko, Kimura Fuminori, Takebayashi Koichi, Fujiwara Mutsuko, Takakura Kenji, Takahashi Kentaro
Department of Obstetrics and Gynecology, Shiga University of Medical Science, Setatsukinowa-cho, Ohtsu, Shiga, Japan.
Acta Obstet Gynecol Scand. 2009;88(7):824-5. doi: 10.1080/00016340902971458.
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.
近期在哺乳动物中的研究表明，卵母细胞中10号染色体缺失的磷酸酶及张力蛋白同源物（PTEN）-磷脂酰肌醇-3,4,5-三磷酸途径可能与卵巢早衰（POF）的发病机制有关。本研究的目的是调查POF女性中是否存在PTEN基因突变。我们分析了20例特发性POF女性和20例正常对照者的PTEN基因编码区。使用从血样中分离的基因组DNA通过聚合酶链反应扩增PTEN基因。扩增的DNA通过变性梯度凝胶电泳和直接测序进行分析。在该基因的编码区未检测到致病突变。虽然我们在1例POF患者的外显子7中发现了一个点变异，但这是一个已报道的单核苷酸多态性。
