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2
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Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.首例导致非综合征性卵巢功能障碍的纯合POLG突变的鉴定。
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Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.聚合酶 γ 基因 POLG 决定了丙戊酸钠诱导肝毒性的风险。
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Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.西班牙人群中新型POLG突变与多个线粒体DNA缺失及可变临床表型的关联
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Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility.精子图谱正常且原因不明的亚生育力患者中线粒体DNA聚合酶γ基因（POLG）的频繁多态性。
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Mitochondrial Dysfunction in Primary Ovarian Insufficiency.原发性卵巢功能不全中的线粒体功能障碍。
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Genetics of primary ovarian insufficiency: new developments and opportunities.原发性卵巢功能不全的遗传学：新进展与机遇
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Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center.一家儿科内分泌中心收治的一系列年轻女孩原发性卵巢功能不全的病因
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Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.欧洲医学辅助生殖与遗传学的当前问题：研究、临床实践、伦理、法律问题与政策。欧洲人类遗传学会与欧洲人类生殖与胚胎学会。
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本文引用的文献

1
The unfolding clinical spectrum of POLG mutations.POLG 突变的临床表现谱。
J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.
2
Bone mineral density in estrogen-deficient young women.雌激素缺乏的年轻女性的骨矿物质密度
J Clin Endocrinol Metab. 2009 Jul;94(7):2277-83. doi: 10.1210/jc.2008-1878. Epub 2009 Apr 28.
3
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.欧洲、澳大利亚、新西兰和美国的POLG疾病突变的高发生率可由单一古代欧洲奠基者来解释。
Eur J Hum Genet. 2007 Jul;15(7):779-83. doi: 10.1038/sj.ejhg.5201831. Epub 2007 Apr 11.
4
Mitochondrial DNA polymerase-gamma and human disease.线粒体DNA聚合酶γ与人类疾病
Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. doi: 10.1093/hmg/ddl233.
5
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.与线粒体聚合酶γ基因突变相关的表型谱
Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18.
6
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.与突变型线粒体DNA聚合酶γ相关的卵巢早衰的显性遗传。
Hum Reprod. 2006 Oct;21(10):2467-73. doi: 10.1093/humrep/del076. Epub 2006 Apr 4.
7
Oxidative phosphorylation and the tricarboxylic acid cycle are essential for normal development of mouse ovarian follicles.
Hum Reprod. 2005 Oct;20(10):2757-63. doi: 10.1093/humrep/dei132. Epub 2005 Jul 8.
8
Consequences of mutations in human DNA polymerase gamma.人类DNA聚合酶γ突变的后果。
Gene. 2005 Jul 18;354:125-31. doi: 10.1016/j.gene.2005.03.029.
9
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study.线粒体DNA聚合酶γ（POLG）的CAG重复序列与男性不育有关吗？一项法国多中心研究。
Hum Reprod. 2005 Mar;20(3):736-40. doi: 10.1093/humrep/deh666. Epub 2005 Jan 13.
10
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.帕金森综合征、过早绝经与线粒体DNA聚合酶γ突变：临床与分子遗传学研究
Lancet. 2004;364(9437):875-82. doi: 10.1016/S0140-6736(04)16983-3.

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.

DOI:10.1016/j.fertnstert.2010.06.049
PMID:20701905
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2992598/
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。