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	Provedor de dados Genet. Mol. Biol. (3) Autor Culpi,Lodércio (3) Boldt,Angelica B.W. (1) Castro,Raquel M.V. (1) Freund,Aline A. (1) Kun,Jürgen F.J. (1) Pereira,Lilian (1) Petzl-Erler,Maria Luiza (1) Pignatti,Pier F. (1) Raskin,Salmo (1) Ribas,Patrícia D. (1) Souza,Ilíada R. (1) Souza,Ilíada Rainha de (1) Tsuneto,Luiza T. (1) Mais... Palavra-chave Polymorphism (2) Admixture (1) Amerindian (1) Blood systems (1) Brazilian (1) CCR5 (1) HIV (1) Isolated community (1) Random genetic drift (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Info:eu-repo/semantics/other (1) Ano 2009 (1) 2005 (1) 1999 (1) País Brazil (3) Idioma Inglês (3)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 3 Primeira ... 1 ... Última Cystic fibrosis mutations R1162X and 2183AA®G in two southern Brasilian states Genet. Mol. Biol. Pereira,Lilian; Raskin,Salmo; Freund,Aline A.; Ribas,Patrícia D.; Castro,Raquel M.V.; Pignatti,Pier F.; Culpi,Lodércio. We screened 79 southern Brazilian patients with cystic fibrosis for the rare cystic fibrosis mutations R1162X and 2183AA<FONT FACE="Symbol">®</FONT>G. Forty-nine patients were born in the State of Paraná (PR) and 30 in the State of Santa Catarina (SC). Two 2183AA<FONT FACE="Symbol">®</FONT>G alleles were found among the SC patients and one among the PR patients. Six R1162X alleles were found among the SC patients and one among the PR patients. Fourteen percent of the alleles found among patients of Italian origin were R1162X, and 7% were 2183AA<FONT FACE="Symbol">®</FONT>G mutations. These mutations, together with <FONT FACE="Symbol">D</FONT>F508, were also studied in a sample of 270 normal non-related... Tipo: Info:eu-repo/semantics/article Ano: 1999 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000300002 Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians Genet. Mol. Biol. Boldt,Angelica B.W.; Culpi,Lodércio; Tsuneto,Luiza T.; Souza,Ilíada R.; Kun,Jürgen F.J.; Petzl-Erler,Maria Luiza. The CC chemokine receptor 5 (CCR5) molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%), which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%). This allele is uncommon in Afro-Brazilians (2.0%), rare in the Guarani Amerindians (0.4%) and absent in the Kaingang... Tipo: Info:eu-repo/semantics/article Palavras-chave: CCR5; Brazilian; Amerindian; HIV; Polymorphism. Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100002 Valongo, genetic studies on an isolated Afro-Brazilian community Genet. Mol. Biol. Souza,Ilíada Rainha de; Culpi,Lodércio. A southern Brazilian isolated community of predominantly sub-Saharan African origin, with a total population of 74 individuals and high degree of inbreeding (F = 0.081) was studied. The small sizes of the breeding (35) and effective (21) populations, as well as the very small effective migration rate (4%), suggest a high probability for the occurrence of genetic drift. A sample was typed for fourteen blood genetic systems and most of these systems seem to reveal the founder effect. This evolutionary factor was probably responsible for the absence of some polymorphic alleles frequent in African populations, i.e.: ABO*B, RHD-RHCE*DCe, GPA-GPB*NS (MNSs*NS), GPA-GPB*NS U (MNSs*NSU), HBB*S, HP*2M and ESD*2. The most unusual allele frequency was that for BCHE*A,... Tipo: Info:eu-repo/semantics/other Palavras-chave: Isolated community; Polymorphism; Random genetic drift; Blood systems; Admixture. Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000300012 Registros recuperados: 3 Primeira ... 1 ... Última

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