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Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil
Provedor de dados: Brazilian Journal of Medical and Biological Research
Autores: Araújo,F.G. de; Novaes,F.C.; Santos,N.P.C. dos; Martins,V.C.; Souza,S.M. de; Santos,S.E.B. dos; Ribeiro-dos-Santos,A.K.C.
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. ThedeltaF508 mutation (a deletion of 3 bp) was only analyzed by...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Cystic fibrosis; Gene mutations; Amazon region; Belém; DeltaF508 gene; G551D gene.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000100003