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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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| Yoshioka,France Keiko Nascimento; Araújo,Amélia Góes; Tavella,Marli Haydee; Hamoy,Igor Guerreiro; Guerreiro,João Farias. |
| Different risk factors for venous thromboembolism (VTE) have been identified, including hereditary abnormalities in the mechanisms of coagulation and fibrinolysis. We investigated five genetic polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, TAFI A152G and TAFI T1053C) associated with VTE in individuals from the city of Belém in the Brazilian Amazon who had no history of VTE. No significant difference was found between the observed and expected genotype frequencies for the loci analyzed. We found high frequencies of MTHFR C677T (33.9%) and TAFI T1053C (74%) and low frequencies of FVL (1.6%), FII G20210A (0.8%) and TAFI A152G (0.8%). The FVL G1691A, FII G20210A and MTHFR C677T frequencies were similar to those for European populations and populations of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Factor V Leiden; Prothrombin; MTHFR; TAFI; Thrombophilia. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100007 |
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