title: Mutational analysis of TOX3 in Chinese Han women with polycystic ovary syndrome.
abstract: A previous genome-wide association study of polycystic ovary syndrome (PCOS) identified several susceptibility loci. TOX3 is the nearest gene to signal rs4784165. In the present study, all exons and exon-intron boundaries of TOX3 were amplified and sequenced in 200 Chinese women with PCOS. A 3-bp nucleotide deletion of CAG repeat and two known single nucleotide polymorphisms were identified. No plausible pathogenic mutations were detected. The results suggest that mutations in TOX3 are not common in Chinese Han women with PCOS.
authors.affiliation: Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200127, China; Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China; Center for Reproductive Medicine, Qilu Hospital of Shandong University, 107 Wenhuaxi Road, Jinan 250012, China.
authors.forename: Yuqian
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200127, China; Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Shigang
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Lv
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Mengru
authors.initials: M
authors.lastname: Yu
authors.affiliation: Institute of Obstetrics and Gynecologic Oncology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200127, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200127, China; Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China. Electronic address: chenzijiang@hotmail.com.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D051017:Apoptosis Regulatory Proteins; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D006609:High Mobility Group Proteins; D006801:Humans; D008969:Molecular Sequence Data; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011980:Receptors, Progesterone / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D015534:Trans-Activators; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; D006609:High Mobility Group Proteins; D011980:Receptors, Progesterone; C521752:TOX3 protein, human; D015534:Trans-Activators
keywords: Keywords:; TOX3; mutation; polycystic ovary syndrome; single-nucleotide polymorphism