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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. |
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... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Amazon region; 21-hydroxylase deficiency; DNA sequencing. |
Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400004 |
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