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metadata.dc.type: Artigo de Periódico
Issue Date: 2008
metadata.dc.creator: 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
Title: CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
Citation: 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: <>. Acesso em: 25 set. 2013. <>.
Abstract: 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.
Keywords: Deficiência da 21 hydroxylase
Amazônia brasileira
Hiperplasia adrenal congênita
ISSN: 1678-4685
metadata.dc.rights: Acesso Aberto
Appears in Collections:Artigos Científicos - ICB

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