Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
Autor(a) principal: | |
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Data de Publicação: | 1998 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Brazilian Journal of Medical and Biological Research |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008 |
Resumo: | We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change. |
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Brazilian Journal of Medical and Biological Research |
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Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditismandrogen receptor genegene mutationsandrogen insensitivity syndromesmale pseudohermaphroditismWe describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change.Associação Brasileira de Divulgação Científica1998-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008Brazilian Journal of Medical and Biological Research v.31 n.6 1998reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X1998000600008info:eu-repo/semantics/openAccessCabral,D.F.Maciel-Guerra,A.T.Hackel,C.eng1998-10-06T00:00:00Zoai:scielo:S0100-879X1998000600008Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:1998-10-06T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false |
dc.title.none.fl_str_mv |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
title |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
spellingShingle |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism Cabral,D.F. androgen receptor gene gene mutations androgen insensitivity syndromes male pseudohermaphroditism |
title_short |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
title_full |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
title_fullStr |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
title_full_unstemmed |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
title_sort |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism |
author |
Cabral,D.F. |
author_facet |
Cabral,D.F. Maciel-Guerra,A.T. Hackel,C. |
author_role |
author |
author2 |
Maciel-Guerra,A.T. Hackel,C. |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Cabral,D.F. Maciel-Guerra,A.T. Hackel,C. |
dc.subject.por.fl_str_mv |
androgen receptor gene gene mutations androgen insensitivity syndromes male pseudohermaphroditism |
topic |
androgen receptor gene gene mutations androgen insensitivity syndromes male pseudohermaphroditism |
description |
We describe the identification of point mutations in the androgen receptor gene in five Brazilian patients with female assignment and behavior. The eight exons of the gene were amplified by the polymerase chain reaction (PCR) and analyzed for single-strand conformation polymorphism (SSCP) to detect the mutations. Direct sequencing of the mutant PCR products demonstrated single transitions in three of these cases: G<FONT FACE="Symbol">®</font>A in case 1, within exon C, changing codon 615 from Arg to His; G<FONT FACE="Symbol">®</font>A in case 2, within exon E, changing codon 752 from Arg to Gln, and C<FONT FACE="Symbol">®</font>T in case 3, within exon B, but without amino acid change. |
publishDate |
1998 |
dc.date.none.fl_str_mv |
1998-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1998000600008 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0100-879X1998000600008 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
dc.source.none.fl_str_mv |
Brazilian Journal of Medical and Biological Research v.31 n.6 1998 reponame:Brazilian Journal of Medical and Biological Research instname:Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC |
instname_str |
Associação Brasileira de Divulgação Científica (ABDC) |
instacron_str |
ABDC |
institution |
ABDC |
reponame_str |
Brazilian Journal of Medical and Biological Research |
collection |
Brazilian Journal of Medical and Biological Research |
repository.name.fl_str_mv |
Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC) |
repository.mail.fl_str_mv |
bjournal@terra.com.br||bjournal@terra.com.br |
_version_ |
1754302929284628480 |