title: Mutations in DMC1 are not responsible for premature ovarian failure in Chinese women.
abstract: The coding region of the disrupted meiotic cDNA gene (DMC1) was examined in 192 Chinese women with premature ovarian failure. Two known single-nucleotide polymorphisms, c.8632C>T in intron 4 and c.32377G>C in intron 10, were identified. The results suggest that mutations in the coding sequence of DMC1 are not associated with premature ovarian failure in Chinese women. The coding region of the disrupted meiotic cDNA gene (DMC1) was examined in 192 Chinese women with premature ovarian failure. Premature ovarian failure is defined as secondary amenorrhoea, infertility, oestrogen deficiency, and elevated gonadotrophin concentration in women younger than 40 years. DMC1 is a meiosis-specific gene, encoding a protein essential for meiotic homologous recombination. It participates in the formation of synaptonemal complexes and repair of double-strand breaks at recombination hotspots. Two known single-nucleotide polymorphisms, c.8632C>T in intron 4 and c.32377G>C in intron 10, were identified. No additional single-nucleotide polymorphisms or mutations were found. The results suggested mutations in the coding sequence of DMC1 are not associated with premature ovarian failure in Chinese women.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Huidan
authors.initials: H
authors.lastname: Wang
authors.forename: Mei
authors.initials: M
authors.lastname: Sun
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Tingting
authors.initials: T
authors.lastname: Xia
authors.forename: Jinlong
authors.initials: J
authors.lastname: Ma
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007438:Introns; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C074556:DMC1 protein, human