title: Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.
abstract: Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.
authors.affiliation: Wellcome Ocular Genetics Unit, Genetics Department, Trinity College, Dublin 2, Ireland.
authors.forename: F C
authors.initials: FC
authors.lastname: Mansergh
authors.forename: P F
authors.initials: PF
authors.lastname: Kenna
authors.forename: G
authors.initials: G
authors.lastname: Rudolph
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: G J
authors.initials: GJ
authors.lastname: Farrar
authors.forename: R
authors.initials: R
authors.lastname: Kumar-Singh
authors.forename: J
authors.initials: J
authors.lastname: Scorer
authors.forename: A M
authors.initials: AM
authors.lastname: Hally
authors.forename: L
authors.initials: L
authors.lastname: Mynett-Johnson
authors.forename: M M
authors.initials: MM
authors.lastname: Humphries
mesh_terms: D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D005819:Genetic Markers; D005858:Germany; D006801:Humans; D007494:Ireland; D008268:Macular Degeneration / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers