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Genet Mol Res ; 13(1): 2094-101, 2014 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-24737434

RESUMO

Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.


Assuntos
Cromossomos Humanos Par 10 , Ligação Genética , Locos de Características Quantitativas , Gagueira/genética , Brasil , Mapeamento Cromossômico , Feminino , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Masculino , Repetições de Microssatélites , Linhagem
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