title: [Genome-wide copy number scan in Chinese patients with premature ovarian failure].
abstract: OBJECTIVE
  To investigate genetic causes in Chinese women with primary ovarian insufficiency (POI) for Genome-wide copy number variations (CNVs), focusing on novel autosomal microdeletions and microduplications.
  
  
  METHODS
  Genome-wide CNVs analysis using Affymetrix SNP 6.0 array was carried out in 30 Chinese POI subjects. And quantitative PCR (qPCR) was further performed for selected coding regions with microdeletions and microduplications in 30 POI subjects and another 40 POI cases.
  
  
  RESULTS
  A total of 101 CNVs were identified by SNP arrays, ranging in size from 0.1 MB to 5.6 MB. These CNVs included 8 novel microduplications and 12 novel microdeletions. Then 4 microdeletions identified in chromosomal regions (10q26.12, 10q26.3, 2p16.3, and 6p26) and 2 microduplications which contained the coding regions (20p12.3 and 7p22.2) were verified by qPCR.
  
  
  CONCLUSIONS
  We report the high-resolution rare CNV analysis, revealing novel microdeletions/microduplications in Chinese POI patients. In the selected verified coding regions, we find that the five genes including SYCE1, CYP2E1, NRXN1, PARK2 and CARD11 may be involved in reproduction, thus representing potential candidate genes in POI.
authors.affiliation: Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Xiu-mei
authors.initials: XM
authors.lastname: Zhen
authors.affiliation: National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.
authors.forename: Yi-min
authors.initials: YM
authors.lastname: Sun
authors.forename: Jie
authors.initials: J
authors.lastname: Qiao
authors.forename: Rong
authors.initials: R
authors.lastname: Li
authors.forename: Li-na
authors.initials: LN
authors.lastname: Wang
authors.forename: Ping
authors.initials: P
authors.lastname: Liu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D055106:Genome-Wide Association Study; D006162:Guanylate Cyclase / Q000235:genetics; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics; D019006:Neural Cell Adhesion Molecules; D009687:Nuclear Proteins / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D060888:Real-Time Polymerase Chain Reaction; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D055815:Young Adult
chemical_list: D053468:CARD Signaling Adaptor Proteins; D002135:Calcium-Binding Proteins; D015816:Cell Adhesion Molecules, Neuronal; C539628:NRXN1 protein, human; D009419:Nerve Tissue Proteins; D019006:Neural Cell Adhesion Molecules; D009687:Nuclear Proteins; C504910:SYCE1 protein, mouse; D019392:Cytochrome P-450 CYP2E1; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; C426242:CARD11 protein, human; D006162:Guanylate Cyclase