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Pharmacogenetic polymorphisms in Brazilian-born, first-generation Japanese descendants 56
Perini,J.A.; Vargens,D.D.; Santana,I.S.C.; Moriguchi,E.H.; Ribeiro-dos-Santos,A.K.C.; Tsutsumi,M.; Suarez-Kurtz,G..
Brazil hosts the largest Japanese community outside Japan, estimated at 1.5 million individuals, one third of whom are first-generation, Brazilian-born with native Japanese parents. This large community provides a unique opportunity for comparative studies of the distribution of pharmacogenetic polymorphisms in native Japanese versus their Brazilian-born descendants. Functional polymorphisms in genes that modulate drug disposition (CYP2C9, CYP2C19 and GSTM3) or response (VKORC1) and that differ significantly in frequency in native Japanese versus Brazilians with no Japanese ancestry were selected for the present study. Healthy subjects (200 native Japanese and 126 first-generation Japanese descendants) living in agricultural colonies were enrolled....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Japanese; Brazil; CYP2C9; CYP2C19; GSTM3; VKORC1.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009001200010
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Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil 56
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
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