title: [Linkage between juvenile glaucoma and chromosome 1q in 2 French families].
abstract: Primary open-angle glaucoma is a major cause of irreversible blindness in Western countries for which there is presently no curative treatment. Linkage of hereditary juvenile glaucoma with chromosome 1q21-q23 was recently described in 2 American families. Here we have studied two large French pedigrees with a similar form of familial autosomal dominant juvenile-onset glaucoma. Linkage of glaucoma with chromosome 1 was confirmed in these 2 families. Maximal lod-score of 7.60 was reached at the D1S212 marker for a recombination fraction of 4.4%. The typing of this marker should facilitate the screening of glaucoma families and the identification of individuals at risk for the disease. It will also provide a reference to evaluate the genetic heterogeneity of glaucoma.
authors.affiliation: INSERM U25, Hôpital Necker, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Meyer
authors.forename: F
authors.initials: F
authors.lastname: Valtot
authors.forename: A
authors.initials: A
authors.lastname: Béchetoille
authors.forename: J F
authors.initials: JF
authors.lastname: Rouland
authors.forename: J C
authors.initials: JC
authors.lastname: Dascotte
authors.forename: C
authors.initials: C
authors.lastname: Férec
authors.forename: J F
authors.initials: JF
authors.lastname: Bach
authors.forename: A
authors.initials: A
authors.lastname: Chaventré
authors.forename: H J
authors.initials: HJ
authors.lastname: Garchon
mesh_terms: D000293:Adolescent; D000328:Adult; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D005602:France; D005819:Genetic Markers; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers
vernacular_title: Liaison du glaucome juvénile au chromosome 1q dans deux familles françaises.