title: Analysis of CGG repeats in FMR1 in Chinese women with idiopathic premature ovarian failure.
abstract: Excessive triple CGG repeats in the FMR1 gene have been widely associated with premature ovarian failure. The number of AGG interruptions and length of uninterrupted CGG repeats have been correlated with repeat instability on transmission. In this study, FMR1 CGG repeats and AGG interruption status were determined by triplet-primed PCR in 117 premature ovarian failure patients and 82 matched controls. A possible relationship between CGG repeats or AGG interruption and serum FSH concentrations in patients and controls was evaluated. One patient had a premutation allele (73 repeats) (1/117), while no such mutations were observed in controls (0/82). Other patients and all controls had CGG repeats in the normal range. There was no significant difference in the incidence of intermediate mutations of CGG repeats between patients and controls and no relationship between CGG repeats with serum FSH concentrations. Interestingly, more individuals with premature ovarian failure carried no AGG interruptions than the controls (4.27% versus 1.83%) but statistical significance was not reached. This small case-control study failed to find associations between CGG repeat sizes or AGG interruptions in FMR1 and premature ovarian failure in Chinese women. Further study with large sample size is warranted.
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Ye
authors.affiliation: Institutes of Biomedical Science and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200032, China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Lan
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Cong
authors.affiliation: Department of Biochemistry, School of Biological Science and Technology, Central South University, Changsha 410013, China.
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.affiliation: Institutes of Biomedical Science and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200032, China.
authors.forename: Yiming
authors.initials: Y
authors.lastname: Wu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Min
authors.initials: M
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Jiayin
authors.initials: J
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Yugui
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Institutes of Biomedical Science and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200032, China; Children's Hospital, Shanghai Medical College, Fudan University, Shanghai 201102, China.
authors.forename: Bai-Lin
authors.initials: BL
authors.lastname: Wu
authors.affiliation: Institutes of Biomedical Science and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200032, China; Children's Hospital, Shanghai Medical College, Fudan University, Shanghai 201102, China. Electronic address: ay.fudan@gmail.com.
authors.forename: Yu
authors.initials: Y
authors.lastname: An
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, China. Electronic address: jie.wuyale@gmail.com.
authors.forename: Jie
authors.initials: J
authors.lastname: Wu
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D006801:Humans; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D018911:Trinucleotide Repeats
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: AGG interruption; CGG repeat; FMR1; intermediate; premature ovarian failure