title: The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.
abstract: A large Swedish family with more than 250 cases of Best's macular dystrophy has been clinically and genetically studied. The gene was traced to a couple born in central Sweden in the 17th century. Highly significant evidence for genetic linkage to DNA markers on chromosome 11q13 was detected. A lod score of 15.12 was obtained at recombination fraction 0.01 with DNA marker INT2 (also called FGF3). The retinally expressed gene ROM1, which maps to the same chromosomal region is a candidate for this genetic disease.
authors.affiliation: Department of Clinical Genetics, University of Umeå, Sweden.
authors.forename: K
authors.initials: K
authors.lastname: Forsman
authors.forename: C
authors.initials: C
authors.lastname: Graff
authors.forename: S
authors.initials: S
authors.lastname: Nordström
authors.forename: K
authors.initials: K
authors.lastname: Johansson
authors.forename: E
authors.initials: E
authors.lastname: Westermark
authors.forename: E
authors.initials: E
authors.lastname: Lundgren
authors.forename: K H
authors.initials: KH
authors.lastname: Gustavson
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
mesh_terms: D002880:Chromosomes, Human, Pair 11; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013548:Sweden
chemical_list: D005819:Genetic Markers