title: Follicle-stimulating hormone receptor gene mutations are rare in Japanese women with premature ovarian failure and polycystic ovary syndrome.
abstract: OBJECTIVE
  To determine whether the known inactivating FSH receptor gene mutations are present in Japanese women with secondary amenorrhea because of premature ovarian failure (POF) and polycystic ovary syndrome (PCOS).
  
  
  METHODS
  Clinical and molecular studies.
  
  
  METHODS
  An outpatient clinic in a university hospital.
  
  
  METHODS
  Fifteen women with idiopathic POF, 38 women with PCOS, and three normal controls.
  
  
  METHODS
  Extraction of DNA from blood samples for subsequent polymerase chain reaction (PCR).
  
  
  METHODS
  PCR fragments digested with MunI, BsmI, and HhaI were compared in patients and controls. PCR fragments were also analyzed by denaturing gradient gel electrophoresis (DGGE) and direct sequencing.
  
  
  RESULTS
  No inactivating mutations reported thus far in exons 6, 7, 9, and 10 of the FSH receptor gene were identified in Japanese women with POF and PCOS. DGGE analysis of PCR fragments of exon 10 also revealed no FSH receptor gene mutations in this region.
  
  
  CONCLUSIONS
  Although we cannot exclude the presence of point mutations in other regions of the FSH receptor gene, the described FSH receptor mutations may be uncommon in Japanese patients with POF and PCOS.
authors.affiliation: Department of Obstetrics and Gynecology, Shiga University of Medical Science, Otsu, Japan. takakura@belle.shiga-med.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Takakura
authors.forename: K
authors.initials: K
authors.lastname: Takebayashi
authors.forename: H Q
authors.initials: HQ
authors.lastname: Wang
authors.forename: F
authors.initials: F
authors.lastname: Kimura
authors.forename: K
authors.initials: K
authors.lastname: Kasahara
authors.forename: Y
authors.initials: Y
authors.lastname: Noda
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D004247:DNA / Q000032:analysis / Q000235:genetics; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D006801:Humans; D007564:Japan / Q000453:epidemiology; D009154:Mutation / Q000235:genetics*; D009691:Nucleic Acid Denaturation; D010049:Ovarian Diseases / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D011962:Receptors, FSH; D004247:DNA