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metadata.dc.type: Artigo de Periódico
Issue Date: Jan-2005
metadata.dc.creator: ARAÚJO, Flávia Gonçalves de
NOVAES, Fabrício Chaves
SANTOS, Ney Pereira Carneiro dos
MARTINS, Valéria de Carvalho
SOUZA, Sheila Maria Ferraz Mendonça de
SANTOS, Sidney Emanuel Batista dos
SANTOS, Ândrea Kely Campos Ribeiro dos
Title: Prevalence of ∆F508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil
Citation: ARAUJO, F. G. de, et al. Prevalence of ∆F508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil. Brazilian Journal of Medical and Biological Research. Ribeirão Preto, v. 38, n. 1, p. 11-15, jan. 2005. Disponível em: <>. Acesso em: 18 mar. 2013. <>.
Abstract: Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. The DF508 mutation (a deletion of 3 bp) was only analyzed by polyacrylamide gel electrophoresis and stained with AgNO3. Each sample was analyzed for regions of interest in the CFTR gene using amplified by PCR and specific primers. The DF508 and G551D mutations presented frequencies of 22.7 and 3%, respectively. In 74.3% of the remaining patients, none of the mutations investigated was found. The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc.) the most frequent mutation ( DF508) in the North region of Brazil and is also the first report of the G551D mutation. In spite of the wide spectrum of CF mutations and the heterogeneous ethnic origin of the Amazon population, the molecular diagnosis is a helpful additional tool for the diagnosis and treatment of CF patients.
Keywords: Fibrose cística
Doenças genéticas
Belém - PA
Pará - Estado
Amazônia brasileira
ISSN: 0100-879X
metadata.dc.rights: Acesso Aberto
Appears in Collections:Artigos Científicos - ICB

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