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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleNew Frameshift Mutation In The 5alpha-reductase Type 2 Gene In A Brazilian Patient With 5alpha-reductase Deficiency.pt_BR
dc.contributor.authorFerraz, L Fpt_BR
dc.contributor.authorMathias Baptista, M Tpt_BR
dc.contributor.authorMaciel-Guerra, A Tpt_BR
dc.contributor.authorJúnior, G Gpt_BR
dc.contributor.authorHackel, Cpt_BR
unicamp.authorL F Ferraz, Centro de Biologia Molecular e Engenharia Genética, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.pt_BR
unicamp.author.externalM T Mathias Baptista,pt
unicamp.author.externalA T Maciel-Guerra,pt
unicamp.author.externalG G Júnior,pt
unicamp.author.externalC Hackel,pt
dc.subject3-oxo-5-alpha-steroid 4-dehydrogenasept_BR
dc.subjectAmino Acid Sequencept_BR
dc.subjectAmino Acid Substitutionpt_BR
dc.subjectBase Sequencept_BR
dc.subjectBrazilpt_BR
dc.subjectCodonpt_BR
dc.subjectDisorders Of Sex Developmentpt_BR
dc.subjectExonspt_BR
dc.subjectFrameshift Mutationpt_BR
dc.subjectGender Identitypt_BR
dc.subjectGenes, Recessivept_BR
dc.subjectHeterozygotept_BR
dc.subjectHumanspt_BR
dc.subjectHypospadiaspt_BR
dc.subjectInfant, Newbornpt_BR
dc.subjectIsoenzymespt_BR
dc.subjectMalept_BR
dc.subjectMolecular Sequence Datapt_BR
dc.subjectPhenotypept_BR
dc.subjectPoint Mutationpt_BR
dc.subjectPubertypt_BR
dc.subjectSequence Deletionpt_BR
dc.subjectSexual Behaviorpt_BR
dc.subjectTerminator Regions, Geneticpt_BR
dc.description.abstractMale pseudohermaphroditism caused by steroid 5alpha-reductase deficiency is an autosomal recessive disorder. The enzyme steroid 5alpha-reductase 2 (encoded by the SRD5A2 gene) catalyses the conversion of testosterone to dihydrotestosterone, which is required for normal differentiation of the external male genitalia. This report describes the molecular analysis of the 5alpha-reductase type 2 gene in a Brazilian patient who was raised as a female, underwent a reversal of gender role behavior, and is now a married man. This patient is a compound heterozygote bearing an A-->G mutation within exon 2, changing codon 126 from Glu to Arg on one allele and a novel single base deletion (418delT) causing a frameshift mutation at codon 140 in the same exon, on the other allele. This last mutation probably leads to the synthesis of a truncated protein, because a premature termination signal is created at codon 159.en
dc.relation.ispartofAmerican Journal Of Medical Geneticspt_BR
dc.relation.ispartofabbreviationAm. J. Med. Genet.pt_BR
dc.date.issued1999-Novpt_BR
dc.identifier.citationAmerican Journal Of Medical Genetics. v. 87, n. 3, p. 221-5, 1999-Nov.pt_BR
dc.language.isoengpt_BR
dc.description.volume87pt_BR
dc.description.firstpage221-5pt_BR
dc.rightsfechadopt_BR
dc.rights.holderCopyright 1999 Wiley-Liss, Inc.pt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0148-7299pt_BR
dc.identifier.doipt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/10564874pt_BR
dc.date.available2015-11-27T12:19:44Z-
dc.date.accessioned2015-11-27T12:19:44Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:19:44Z (GMT). No. of bitstreams: 1 pmed_10564874.pdf: 1364394 bytes, checksum: d08bbfc9ac0ae9ea132dee6d97528ad8 (MD5) Previous issue date: 1999en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194447-
dc.identifier.idPubmed10564874pt_BR
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