Data/hora: 09/06/2024 15:23:12

Provedor de dados: | 74
País: | Brazil
Título: | CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region
Autores: | 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.
Data: | 2008-01-01
Ano: | 2008
Palavras-chave: | Amazon region; 21-hydroxylase deficiency; DNA sequencing.
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 &gt; 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400004
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572008000400004
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.31 n.3 2008
Fonte: | info:eu-repo/semantics/openAccess