Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

McWilliam, P; Farrar, G J; Kenna, P; Bradley, D G; Humphries, M M; Sharp, E M; McConnell, D J; Lawler, M; Sheils, D; Ryan, C

McWilliam, P; Farrar, G J; Kenna, P; Bradley, D G; Humphries, M M; Sharp, E M; McConnell, D J; Lawler, M; Sheils, D; Ryan, C.

Afiliação

McWilliam P; Department of Genetics, Trinity College Dublin, Ireland.

Genomics ; 5(3): 619-22, 1989 Oct.

Article em En | MEDLINE | ID: mdl-2613244

ABSTRACT

ABSTRACT

Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3. Significant, tight linkage of ADRP to D3S47, with a lod score of 14.7 maximizing at 0.00 recombination, has been obtained, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

Assuntos

Cromossomos Humanos Par 3; Genes Dominantes; Ligação Genética; Retinose Pigmentar/genética; Mapeamento Cromossômico; Feminino; Marcadores Genéticos; Humanos; Escore Lod; Masculino; Linhagem; Polimorfismo Genético; Recombinação Genética

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 3 / Retinose Pigmentar / Genes Dominantes / Ligação Genética Limite: Female / Humans / Male Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 1989 Tipo de documento: Article País de afiliação: Irlanda

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