CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region

Detalhes bibliográficos
Autor(a) principal: CARVALHO, Tarcísio André Amorim de
Data de Publicação: 2008
Outros Autores: SOUZA, Isabel Cristina Neves de, YOSHIOKA, France Keiko Nascimento, CALDATO, Milena Coelho Fernandes, TORRES, Nilza Nei, GARCIA, Lena Stilianidi, GUERREIRO, João Farias
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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spelling 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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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>.
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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>.
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