title: Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
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.
authors.affiliation: 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.
authors.forename: Zhi-Bin
authors.initials: ZB
authors.lastname: Tong
authors.forename: Shannon D
authors.initials: SD
authors.lastname: Sullivan
authors.forename: Lindsey M
authors.initials: LM
authors.lastname: Lawless
authors.forename: Vien
authors.initials: V
authors.lastname: Vanderhoof
authors.forename: Keith
authors.initials: K
authors.lastname: Zachman
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nelson
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000150:complications / Q000235:genetics; D000293:Adolescent; D000328:Adult; D003430:Cross-Sectional Studies; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000502:physiology; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D016649:Primary Ovarian Insufficiency / Q000209:etiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human