title: Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.
abstract: Autosomal dominant juvenile-onset open-angle glaucoma has been mapped to 1q21-31 in a number of American families. Our study confirms linkage in a Danish five-generation dominant juvenile-onset glaucoma family with a maximum two-point lod score of 6.67 at the D1S210 locus. Multipoint linkage analysis in a nine-generation Swedish family with dominant juvenile-onset glaucoma and iris hypoplasia excludes linkage to the region of approximately 18 cM between loci D1S104 and D1S218, shown to contain the previously mapped glaucoma gene. This study thus provides support for genetic heterogeneity with respect to dominant juvenile-onset glaucoma.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Graff
authors.forename: S F
authors.initials: SF
authors.lastname: Urbak
authors.forename: T
authors.initials: T
authors.lastname: Jerndal
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003718:Denmark; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D018740:Genetic Heterogeneity; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D013548:Sweden