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Type: Artigo de periódico
Title: Analysis Of Anti-müllerian Hormone (amh) And Its Receptor (amhr2) Genes In Patients With Persistent Müllerian Duct Syndrome [pesquisa De Mutações Nos Genes Do Hormônio Antimülleriano (amh) E Do Seu Receptor (amhr2) Em Pacientes Com Síndrome De Persistência Dos Ductos Müllerianos]
Author: Nishi M.Y.
Domenice S.
Maciel-Guerra A.T.
Neto A.Z.
da Silva M.A.C.P.
Costa E.M.F.
Guerra-Junior G.
de Mendonca B.B.
Abstract: Objective: To screen for mutations in AMH and AMHR2 genes in patients with persistent Müllerian 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. © ABE&M todos os direitos reservados.
Rights: aberto
Identifier DOI: 10.1590/S0004-27302012000800002
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

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