Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.
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.
Drummond
Juliana B
JB
Department of Pharmacology, Federal University of Minas Gerais, Belo Horizonte, 30310-360, Brazil. jubeaudette@hotmail.com
Rezende
Camila F
CF
Peixoto
Fabio C
FC
Carvalho
Joana S
JS
Reis
Fernando M
FM
De Marco
Luiz
L
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
D051176:beta Catenin; D004247:DNA; C000605506:GSK3B protein, human; D000071679:Glycogen Synthase Kinase 3 beta; D038362:Glycogen Synthase Kinase 3