title: Analysis of Chinese women with primary ovarian insufficiency by high resolution array-comparative genomic hybridization.
abstract: BACKGROUND
  Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years. The etiology of primary ovarian insufficiency in human female patients is still unclear. The purpose of this study is to investigate the potential genetic causes in primary amenorrhea patients by high resolution array based comparative genomic hybridization (array-CGH) analysis.
  
  
  METHODS
  Following the standard karyotyping analysis, genomic DNA from whole blood of 15 primary amenorrhea patients and 15 normal control women was hybridized with Affymetrix cytogenetic 2.7M arrays following the standard protocol. Copy number variations identified by array-CGH were confirmed by real time polymerase chain reaction.
  
  
  RESULTS
  All the 30 samples were negative by conventional karyotyping analysis. Microdeletions on chromosome 17q21.31-q21.32 with approximately 1.3 Mb were identified in four patients by high resolution array-CGH analysis. This included the female reproductive secretory pathway related factor N-ethylmaleimide-sensitive factor (NSF) gene.
  
  
  CONCLUSIONS
  The results of the present study suggest that there may be critical regions regulating primary ovarian insufficiency in women with a 17q21.31-q21.32 microdeletion. This effect might be due to the loss of function of the NSF gene/genes within the deleted region or to effects on contiguous genes.
authors: Department of Medical Genetics and Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong 510623, China. canliao@hotmail.com
authors: Can
authors: C
authors: Liao
authors: Fang
authors: F
authors: Fu
authors: Xin
authors: X
authors: Yang
authors: Yi-Min
authors: YM
authors: Sun
authors: Dong-Zhi
authors: DZ
authors: Li
mesh_terms: D000328:Adult; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D055815:Young Adult