CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFPA |
Texto Completo: | http://repositorio.ufpa.br/jspui/handle/2011/4278 |
Resumo: | Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far. |
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2013-09-25T16:38:57Z2013-09-25T16:38:57Z2008CARVALHO, Tarcísio André Amorim de, et al. CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region. Genetics and Molecular Biology, São Paulo, v. 31, n. 3, p. 626-631, 2008. Disponível em: <http://www.scielo.br/pdf/gmb/v31n3/a04v31n3.pdf>. Acesso em: 25 set. 2013. <http://dx.doi.org/10.1590/S1415-47572008000400004>.1678-46851415-4757http://repositorio.ufpa.br/jspui/handle/2011/4278Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far.engHiperplasia adrenal congênitaDeficiência da 21 hydroxylaseAmazônia brasileiraCYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon regioninfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleCARVALHO, Tarcísio André Amorim deSOUZA, Isabel Cristina Neves deYOSHIOKA, France Keiko NascimentoCALDATO, Milena Coelho FernandesTORRES, Nilza NeiGARCIA, Lena StilianidiGUERREIRO, João Fariasinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFPAinstname:Universidade Federal do Pará (UFPA)instacron:UFPAORIGINALArtigo_CYP21GeneMutations.pdfArtigo_CYP21GeneMutations.pdfapplication/pdf74780http://repositorio.ufpa.br/oai/bitstream/2011/4278/1/Artigo_CYP21GeneMutations.pdfc5761dcb2f3f90852898406cb585d9c0MD51CC-LICENSElicense_urllicense_urltext/plain; charset=utf-852http://repositorio.ufpa.br/oai/bitstream/2011/4278/2/license_url3d480ae6c91e310daba2020f8787d6f9MD52license_textlicense_texttext/html; charset=utf-80http://repositorio.ufpa.br/oai/bitstream/2011/4278/3/license_textd41d8cd98f00b204e9800998ecf8427eMD53license_rdflicense_rdfapplication/rdf+xml; charset=utf-822974http://repositorio.ufpa.br/oai/bitstream/2011/4278/4/license_rdf99c771d9f0b9c46790009b9874d49253MD54LICENSElicense.txtlicense.txttext/plain; charset=utf-81703http://repositorio.ufpa.br/oai/bitstream/2011/4278/5/license.txt1b17af3c3a621c3d44684a44b1c38961MD55TEXTArtigo_CYP21GeneMutations.pdf.txtArtigo_CYP21GeneMutations.pdf.txtExtracted texttext/plain30959http://repositorio.ufpa.br/oai/bitstream/2011/4278/6/Artigo_CYP21GeneMutations.pdf.txt622f6804e976b6181fcd5f482df39bbdMD562011/42782019-05-23 08:11:46.095oai:repositorio.ufpa.br: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Repositório InstitucionalPUBhttp://repositorio.ufpa.br/oai/requestriufpabc@ufpa.bropendoar:21232019-05-23T11:11:46Repositório Institucional da UFPA - Universidade Federal do Pará (UFPA)false |
dc.title.pt_BR.fl_str_mv |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
title |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
spellingShingle |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region CARVALHO, Tarcísio André Amorim de Hiperplasia adrenal congênita Deficiência da 21 hydroxylase Amazônia brasileira |
title_short |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
title_full |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
title_fullStr |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
title_full_unstemmed |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
title_sort |
CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region |
author |
CARVALHO, Tarcísio André Amorim de |
author_facet |
CARVALHO, Tarcísio André Amorim de SOUZA, Isabel Cristina Neves de YOSHIOKA, France Keiko Nascimento CALDATO, Milena Coelho Fernandes TORRES, Nilza Nei GARCIA, Lena Stilianidi GUERREIRO, João Farias |
author_role |
author |
author2 |
SOUZA, Isabel Cristina Neves de YOSHIOKA, France Keiko Nascimento CALDATO, Milena Coelho Fernandes TORRES, Nilza Nei GARCIA, Lena Stilianidi GUERREIRO, João Farias |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
CARVALHO, Tarcísio André Amorim de SOUZA, Isabel Cristina Neves de YOSHIOKA, France Keiko Nascimento CALDATO, Milena Coelho Fernandes TORRES, Nilza Nei GARCIA, Lena Stilianidi GUERREIRO, João Farias |
dc.subject.por.fl_str_mv |
Hiperplasia adrenal congênita Deficiência da 21 hydroxylase Amazônia brasileira |
topic |
Hiperplasia adrenal congênita Deficiência da 21 hydroxylase Amazônia brasileira |
description |
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated only in Southeast Brazilian patients. This study is the first report on the distribution of CYP21 mutations in patients from the Amazon region. Direct sequencing of the CYP21 gene identified at least one mutation in 96% of the studied chromosomes. The most common mutations found were IVS2-13A/C > G (36%), Q318X (12%), V281L (12%), 1760_1761insT (9%), Cluster E6 (7%), and P30L (7%). The worldwide most common mutations were identified among patients from the Amazon region at frequencies that may be expected for a population resulting from the admixture of Europeans (predominantly Portuguese), African Blacks and Amerindians, in proportions that differ from those estimated for South Brazilian populations. Interethnic mixture may explain the differences in the frequencies of some mutations between Brazilian patients from the Amazon and from the Southeast of the country. However, the differences found may also be due to variation in the number of patients with the different clinical forms of 21-hydroxylase deficiency in the studies carried out so far. |
publishDate |
2008 |
dc.date.issued.fl_str_mv |
2008 |
dc.date.accessioned.fl_str_mv |
2013-09-25T16:38:57Z |
dc.date.available.fl_str_mv |
2013-09-25T16:38:57Z |
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info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
CARVALHO, Tarcísio André Amorim de, et al. CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region. Genetics and Molecular Biology, São Paulo, v. 31, n. 3, p. 626-631, 2008. Disponível em: <http://www.scielo.br/pdf/gmb/v31n3/a04v31n3.pdf>. Acesso em: 25 set. 2013. <http://dx.doi.org/10.1590/S1415-47572008000400004>. |
dc.identifier.uri.fl_str_mv |
http://repositorio.ufpa.br/jspui/handle/2011/4278 |
dc.identifier.issn.none.fl_str_mv |
1678-4685 1415-4757 |
identifier_str_mv |
CARVALHO, Tarcísio André Amorim de, et al. CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region. Genetics and Molecular Biology, São Paulo, v. 31, n. 3, p. 626-631, 2008. Disponível em: <http://www.scielo.br/pdf/gmb/v31n3/a04v31n3.pdf>. Acesso em: 25 set. 2013. <http://dx.doi.org/10.1590/S1415-47572008000400004>. 1678-4685 1415-4757 |
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http://repositorio.ufpa.br/jspui/handle/2011/4278 |
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eng |
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