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	Provedor de dados Genet. Mol. Biol. (2) Autor Simões,Aguinaldo Luiz (2) Wiezel,Cláudia Emília Vieira (2) Canas,Maria do Carmo Tomitão (1) Ferreira,Luzitano Brandão (1) Luizon,Marcelo Rizzatti (1) Mendes-Junior,Celso Teixeira (1) Mais... Palavra-chave Brazil (1) Machado-Joseph disease (1) Mulatto (1) Segregation distortion (1) Spinocerebellar ataxia type 1 (1) White (1) Y-STR (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2006 (1) 2003 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Y-STR diversity and ethnic admixture in White and Mulatto Brazilian population samples Genet. Mol. Biol. Ferreira,Luzitano Brandão; Mendes-Junior,Celso Teixeira; Wiezel,Cláudia Emília Vieira; Luizon,Marcelo Rizzatti; Simões,Aguinaldo Luiz. We investigated 50 Mulatto and 120 White Brazilians for the Y-chromosome short tandem repeat (Y-STR) markers (DYS19, DYS390, DYS391, DYS392 and DYS393) and found 79 different haplotypes in the White and 35 in the Mulatto sample. Admixture estimates based on allele frequencies showed that the admixture of the white sample was 89% European, 6% African and 5% Amerindian while the Mulatto sample was 93% European and 7% African. Results were consistent with historical records of the directional mating between European males and Amerindian or African females. Tipo: Info:eu-repo/semantics/article Palavras-chave: Brazil; Mulatto; White; Y-STR. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400004 The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies Genet. Mol. Biol. Wiezel,Cláudia Emília Vieira; Canas,Maria do Carmo Tomitão; Simões,Aguinaldo Luiz. Spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG trinucleotide repeat in the SCA1 and MJD genes. These expanded sequences are unstable upon transmission, leading to an intergeneration increase in the number of repeats (dynamic mutation). The transmission of the CAG repeat was studied in normal mother-father-child trios, referred for paternity testing (SCA1, n = 367; MJD, n = 879). No segregation distortion was detected. The CAG allele frequencies were determined in 330 unrelated individuals (fathers from couples tested for paternity). The allele frequency distributions did not differ from those previously reported for European populations. The... Tipo: Info:eu-repo/semantics/article Palavras-chave: Segregation distortion; Spinocerebellar ataxia type 1; Machado-Joseph disease. Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572003000200002 Registros recuperados: 2 Primeira ... 1 ... Última

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