title: Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.
abstract: OBJECTIVE
  To study the beta-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients.
  
  
  METHODS
  Twelve patients with the Mayer-Rokitansky-Küster-Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying beta-catenin GSK-3beta phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced.
  
  
  RESULTS
  No mutations were found in the GSK-3beta phosphorylation sites on exon 3 of beta-catenin gene in this group of patients with the MRKH syndrome.
  
  
  CONCLUSIONS
  beta-catenin gene mutations are an unlikely cause of the MRKH syndrome.
authors.affiliation: Department of Pharmacology, Federal University of Minas Gerais, Belo Horizonte, 30310-360, Brazil. jubeaudette@hotmail.com
authors.forename: Juliana B
authors.initials: JB
authors.lastname: Drummond
authors.forename: Camila F
authors.initials: CF
authors.lastname: Rezende
authors.forename: Fabio C
authors.initials: FC
authors.lastname: Peixoto
authors.forename: Joana S
authors.initials: JS
authors.lastname: Carvalho
authors.forename: Fernando M
authors.initials: FM
authors.lastname: Reis
authors.forename: Luiz
authors.initials: L
authors.lastname: De Marco
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D020134:Catalytic Domain; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D038362:Glycogen Synthase Kinase 3 / Q000378:metabolism; D000071679:Glycogen Synthase Kinase 3 beta; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D010766:Phosphorylation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013577:Syndrome; D055815:Young Adult; D051176:beta Catenin / Q000235:genetics* / Q000378:metabolism
chemical_list: D051176:beta Catenin; D004247:DNA; C000605506:GSK3B protein, human; D000071679:Glycogen Synthase Kinase 3 beta; D038362:Glycogen Synthase Kinase 3