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Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome.


ABSTRACT: To study the beta-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients.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.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.beta-catenin gene mutations are an unlikely cause of the MRKH syndrome.

SUBMITTER: Drummond JB 

PROVIDER: S-EPMC2593771 | biostudies-literature | 2008 Nov-Dec

REPOSITORIES: biostudies-literature

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Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.

Drummond Juliana B JB   Rezende Camila F CF   Peixoto Fabio C FC   Carvalho Joana S JS   Reis Fernando M FM   De Marco Luiz L  

Journal of assisted reproduction and genetics 20081101 11-12


<h4>Purpose</h4>To study the beta-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients.<h4>Methods</h4>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.<h4>Results</h4>No mutations were found in the GSK-3beta phosphorylation sites on exon 3 of beta-catenin  ...[more]

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