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	Provedor de dados Genet. Mol. Biol. (2) Autor Moura-Neto,Rodrigo Soares (2) Cabello,Pedro H. (1) Duro,Luiz Alves (1) Freitas,Silvia Regina Sampaio (1) Goulart,Luiz Ricardo (1) Inácio,Juarez (1) Parreira,Kleber Simônio (1) Vieira,Gismar Silva (1) Mais... Palavra-chave Brazilian population (1) CTG repeat (1) DMPK gene (1) Dynamic mutation (1) Fixed-bin frequency (1) Myotonic dystrophy (1) Trinucleotide repeat (1) VNTR loci (1) Mais... Tipo do documento Info:eu-repo/semantics/article (1) Info:eu-repo/semantics/other (1) Ano 2007 (1) 2002 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Analysis of the DMPK gene CTG repeat in healthy Brazilians Genet. Mol. Biol. Freitas,Silvia Regina Sampaio; Cabello,Pedro H.; Moura-Neto,Rodrigo Soares; Duro,Luiz Alves. Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine (CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals [(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles [(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected 20 different alleles ranging in size from 5 to 27 CTG repeats, with 24... Tipo: Info:eu-repo/semantics/article Palavras-chave: Myotonic dystrophy; Dynamic mutation; Trinucleotide repeat; CTG repeat; DMPK gene. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100004 Fixed bin frequency distribution for the VNTR Loci D2S44, D4S139, D5S110, and D8S358 in a population sample from Minas Gerais, Brazil Genet. Mol. Biol. Parreira,Kleber Simônio; Vieira,Gismar Silva; Inácio,Juarez; Moura-Neto,Rodrigo Soares; Goulart,Luiz Ricardo. Fixed bin frequencies for the VNTR loci D2S44, D4S139, D5S110, and D8S358 were determined in a Minas Gerais population sample. The data were generated by RFLP analysis of HaeIII-digested genomic DNA and chemiluminescent detection. The four VNTR loci have met Hardy-Weinberg equilibrium, and there was no association of alleles among VNTR loci. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a DNA profile in the general Brazilian population. Tipo: Info:eu-repo/semantics/other Palavras-chave: Fixed-bin frequency; VNTR loci; Brazilian population. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300004 Registros recuperados: 2 Primeira ... 1 ... Última

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