PURPOSE: 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.
PURPOSE: 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: Juliana B Drummond; Fernando M Reis; Wolfanga L M Boson; Leticia F G Silveira; Maria A C Bicalho; Luiz De Marco Journal: Fertil Steril Date: 2007-11-14 Impact factor: 7.329
Authors: Varvara Ermioni Triantafyllidi; Despoina Mavrogianni; Andreas Kalampalikis; Michael Litos; Stella Roidi; Lina Michala Journal: Children (Basel) Date: 2022-06-27