线粒体 DNA 聚合酶-γ（POLG）的 5 种突变并非自发性 46,XX 原发性卵巢功能不全的常见病因。
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
机构信息
Intramural Research Program on Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1103, USA.
出版信息
Fertil Steril. 2010 Dec;94(7):2932-4. doi: 10.1016/j.fertnstert.2010.06.049. Epub 2010 Aug 11.
Abstract
The study objective was to determine if mutations in mitochondrial DNA polymerase gamma (POLG) are associated with spontaneous 46,XX primary ovarian insufficiency (sPOI) using restriction fragment length polymorphism analysis of genomic DNA. Of 201 women with 46,XX sPOI analyzed, we found only one case (0.5%, 95% confidence interval 0-3%) of heterozygosity for a POLG mutation, suggesting that this is not a common genetic etiology for this form of infertility.
摘要
研究目的是通过对基因组 DNA 进行限制性片段长度多态性分析，确定线粒体 DNA 聚合酶 γ (POLG) 突变是否与自发性 46,XX 原发性卵巢功能不全 (sPOI) 相关。在分析的 201 名 46,XX sPOI 女性中，我们仅发现一例 (0.5%，95%置信区间 0-3%) 存在 POLG 突变的杂合性，这表明该突变不是这种形式的不孕症的常见遗传病因。
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