title: The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls.
abstract: OBJECTIVE
  To examine the FSH receptor gene for detectable abnormalities in women with premature ovarian failure.
  
  
  METHODS
  Study of genomic DNA from controls and from patients with 46,XX premature ovarian failure (POF).
  
  
  METHODS
  Clinics and laboratories of university gynecology and obstetrics departments.
  
  
  METHODS
  Twenty-one women with 46,XX POF and 40 normal fertile controls.
  
  
  METHODS
  Deoxyribonucleic acid was analyzed in patients and controls by Southern blot analysis, polymerase chain reaction (PCR), and denaturing gradient gel electrophoresis. Southern blots were hybridized with the FSH receptor complementary DNA and other smaller DNA probes. Exons 1, 5 to 6, and 10 were amplified by PCR and electrophoresed on agarose gels. Polymerase chain reaction products from exons 1 and 10 were electrophoresed on denaturing gradient gels.
  
  
  METHODS
  Fragments obtained by Southern blot analysis and PCR were compared in patients and controls. Polymerase chain reaction fragments electrophoresed on denaturing gels also were compared in patients and controls.
  
  
  CONCLUSIONS
  No FSH receptor gene deletions or other mutations were identified in women with POF. Southern blots containing PstI- and HindIII-digested DNA revealed restriction fragment length polymorphisms in both patients and controls. Denaturing gradient gel electrophoresis analysis of PCR fragments of exon 10 also demonstrated DNA sequence polymorphisms in both patients and controls. Follicle-stimulating hormone receptor gene deletions are not common in women with POF, although the gene is polymorphic. We cannot exclude point mutations in other regions of the FSH receptor gene in some patients with POF.
authors.affiliation: Department of Gynecology and Obstetrics, Loma Linda University School of Medicine, California, USA.
authors.forename: E A
authors.initials: EA
authors.lastname: Whitney
authors.forename: L C
authors.initials: LC
authors.lastname: Layman
authors.forename: P J
authors.initials: PJ
authors.lastname: Chan
authors.forename: A
authors.initials: A
authors.lastname: Lee
authors.forename: D B
authors.initials: DB
authors.lastname: Peak
authors.forename: P G
authors.initials: PG
authors.lastname: McDonough
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D004247:DNA / Q000032:analysis*; D015342:DNA Probes; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*
chemical_list: D015342:DNA Probes; D009692:Nucleic Acid Heteroduplexes; D011962:Receptors, FSH; D004247:DNA