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: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400004 |
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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CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon regionAmazon region21-hydroxylase deficiencyDNA sequencingCongenital 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.Sociedade Brasileira de Genética2008-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400004Genetics and Molecular Biology v.31 n.3 2008reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572008000400004info:eu-repo/semantics/openAccessCarvalho,Tarcísio André Amorim deSouza,Izabel Cristina Neves deYoshioka,France Keiko NascimentoCaldato,Milena Coelho FernandesTorres,Nilza NeiGarcia,Lena StilianidiGuerreiro,João Fariaseng2008-08-18T00:00:00Zoai:scielo:S1415-47572008000400004Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2008-08-18T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.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 Amazon region 21-hydroxylase deficiency DNA sequencing |
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,Izabel 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,Izabel 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,Izabel 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 |
Amazon region 21-hydroxylase deficiency DNA sequencing |
topic |
Amazon region 21-hydroxylase deficiency DNA sequencing |
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.none.fl_str_mv |
2008-01-01 |
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=S1415-47572008000400004 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400004 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572008000400004 |
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 |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.31 n.3 2008 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122381444317184 |