Abstract
Purpose
To study the β-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 β-catenin GSK-3β phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced.
Results
No mutations were found in the GSK-3β phosphorylation sites on exon 3 of β-catenin gene in this group of patients with the MRKH syndrome.
Conclusions
β-catenin gene mutations are an unlikely cause of the MRKH syndrome.
References
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Acknowledgement
This work was partially supported by FAPEMIG and CNPq (#473169/2004-5), Brasil.
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Capsule β-catenin gene mutations were not detected in a group of twelve patients with the Mayer-Rokitansky Küster-Hauser (MRKH) anomaly.
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Drummond, J.B., Rezende, C.F., Peixoto, F.C. et al. Molecular analysis of the β-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. J Assist Reprod Genet 25, 511–514 (2008). https://doi.org/10.1007/s10815-008-9261-y
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DOI: https://doi.org/10.1007/s10815-008-9261-y