Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

Marchant, D; Gogat, K; Boutboul, S; Péquignot, M; Sternberg, C; Dureau, P; Roche, O; Uteza, Y; Hache, J C; Puech, B; Puech, V; Dumur, V; Mouillon, M; Munier, F L; Schorderet, D F; Marsac, C; Dufier, J L; Abitbol, M

Marchant, D; Gogat, K; Boutboul, S; Péquignot, M; Sternberg, C; Dureau, P; Roche, O; Uteza, Y; Hache, J C; Puech, B; Puech, V; Dumur, V; Mouillon, M; Munier, F L; Schorderet, D F; Marsac, C; Dufier, J L; Abitbol, M.

Afiliação

Marchant D; Centre de recherche thérapeutique en ophtalmologie, Equipe d'accueil 2502 MENRT, Université René Descartes Paris V, Faculté de Médecine Necker-Enfants Malades, 156 rue de Vaugirard, 75015 Paris, France.

Hum Mutat ; 17(3): 235, 2001 Mar.

Article em En | MEDLINE | ID: mdl-11241846

ABSTRACT

ABSTRACT

ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S). An SSCP analysis of the VMD2 11 exons revealed electrophoretic mobility shifts exclusively in exons 2, 3, 4, 6 and 8. Direct sequencing indicated that these shifts are caused by mono-allelic transition in exons 2, 4, 6, 8 and transversion in exons 3 and 6. Five novel "silent" polymorphisms are also reported 213T>C, 323C>A, 1514A>G, 1661C>T, and 1712T>C. Hum Mutat 17235, 2001.

Assuntos

Proteínas do Olho/genética; Degeneração Macular/genética; Sequência de Bases; Bestrofinas; Canais de Cloreto; DNA/química; DNA/genética; Análise Mutacional de DNA; Saúde da Família; Feminino; Humanos; Degeneração Macular/patologia; Masculino; Mutação; Mutação de Sentido Incorreto; Linhagem

Buscar no Google

Imprimir

XML

PubMed Links

Base de dados: MEDLINE Assunto principal: Proteínas do Olho / Degeneração Macular Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2001 Tipo de documento: Article

Buscar no Google

Imprimir

XML

PubMed Links