期刊
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
卷 25, 期 11-12, 页码 511-514出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10815-008-9261-y
关键词
Mayer-Rokitansky-Kuster-Hauser syndrome; beta-catenin; molecular analysis; Mullerian ducts; anti-Mullerian hormone
资金
- FAPEMIG, Brasil
- CNPq, Brasil [473169/2004-5]
Purpose To study the beta-catenin gene in a group of Mayer-Rokitansky- Kuster-Hauser patients. Methods Twelve patients with the Mayer-Rokitansky-Kuster- Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying beta-catenin GSK-3 beta phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced. Results No mutations were found in the GSK-3 beta 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.
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