title: Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa.
abstract: Our purpose was to search for mutations in the apolipoprotein E (apoE) gene and to evaluate the role of apoE polymorphisms in the occurrence of autosomal dominant retinitis pigmentosa (ADRP). The ApoE gene coding sequence was analyzed in 51 unrelated patients affected with ADRP. A screening for mutations by SSCP and an analysis of the apoE polymorphisms were performed using PCR and restriction enzymatic digestion. No abnormal patterns of migration were observed by SSCP analysis. No significant statistical difference was seen between our ADRP population and the French general population for apoE allele frequency. From these results we report that the apoE gene does not seems to be involved in our ADRP population.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: E H
authors.initials: EH
authors.lastname: Souied
authors.forename: P
authors.initials: P
authors.lastname: Benlian
authors.forename: J M
authors.initials: JM
authors.lastname: Rozet
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: J P
authors.initials: JP
authors.lastname: Lagarde
authors.forename: G
authors.initials: G
authors.lastname: Coscas
authors.forename: G
authors.initials: G
authors.lastname: Soubrane
authors.forename: J L
authors.initials: JL
authors.lastname: Duffier
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D005787:Gene Frequency; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*
chemical_list: D001057:Apolipoproteins E