title: Genetic fine mapping of the gene for recessive Stargardt disease.
abstract: Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently shown genetic homogeneity and a location of the underlying gene at 1p22-p21 in a 4-cM interval. Haplotype analysis in seven Dutch STGD families with 11 highly polymorphic markers spanning the critical region has enabled us to refine the location of the underlying gene to a 2-cM region flanked by the loci D1S406 and D1S236. We have identified one 45-year-old nonpenetrant individual who carries two disease alleles. In another family, an affected individual inherited the paternal but not the maternal disease chromosome, suggesting genetic heterogeneity or a different mechanism leading to the disease in this family.
authors.affiliation: Department of Ophthalmology, University Hospital Nijmegen, The Netherlands.
authors.forename: C B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: F
authors.initials: F
authors.lastname: Poppelaars
authors.forename: T J
authors.initials: TJ
authors.lastname: van de Pol
authors.forename: H
authors.initials: H
authors.lastname: Kremer
authors.forename: A J
authors.initials: AJ
authors.lastname: Pinckers
authors.forename: A F
authors.initials: AF
authors.lastname: Deutman
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D000483:Alleles; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D003118:Color Perception; D005260:Female; D005808:Genes, Recessive; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers