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Type: Artigo de periódico
Title: Analysis of anti-Mullerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Mullerian duct syndrome
Author: Nishi, Mirian Yumie
Domenice, Sorahia
Maciel-Guerra, Andrea Trevas
Zaba Neto, Alberto
Cavalaro Pereira da Silva, Marcia Alessandra
Frade Costa, Elaine Maria
Guerra-Junior, Gil
de Mendonca, Berenice Bilharinho
Abstract: Objective: To screen for mutations in AMH and AMHR2 genes in patients with persistent Mullerian duct syndrome (PMDS). Patients and method: Genomic DNA of eight patients with PMDS was obtained from peripheral blood leukocytes. Directed sequencing of the coding regions and the exon-intron boundaries of AMH and AMHR2 were performed. Results: The AMH mutations p.Arg95*, p.Arg123Trp, c.556-2A>G, and p. Arg502Leu were identified in five patients; and p.Gly323Ser and p.Arg407* in AMHR2 of two individuals. In silico analyses of the novel c.556-2A>G, p.Arg502Leu and p.Arg407* mutations predicted that they were harmful and were possible causes of the disease. Conclusion: A likely molecular etiology was found in the eight evaluated patients with PMDS. Four mutations in AMH and two in AMHR2 were identified. Three of them are novel mutations, c.556-2A>G, and p. Arg502Leu in AMH; and p.Gly323Ser in AMHR2. Arq Bras Endocrinol Metab. 2012;56(8):473-8
Subject: AMH
anti-Mullerian hormone
hernia inguinalis
persistent Mullerian duct syndrome
Country: Brazil
Editor: Sbem-Soc Brasil Endocrinologia & Metabologia
Rights: fechado
Date Issue: 2012
Appears in Collections:FCM - Artigos e Outros Documentos

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