A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34
K. Zhang, P. P. Bither, R. Park, L. A. Donoso, J. G. Seidman and C. E. Seidman
Department of Genetics, Brigham and Women's Hospital, Boston, Mass.
OBJECTIVE: To identify the chromosomal location of a mutated gene that
causes an autosomal dominant Stargardt's macular dystrophy. METHODS: Ocular
examinations were performed on 67 members of a large kindred to identify
those with macular dystrophy. DNA analyses defined the genotype of all
family members at 49 polymorphic loci. Linkage between the gene defect
responsible for this macular dystrophy and each polymorphic locus was
assessed by lodscore calculations. RESULTS: Diminished visual acuity and
funduscopic abnormalities were found in 29 family members, which was
diagnostic of macular dystrophy. Genetic analyses demonstrated that
polymorphic loci from chromosome 13 band q34 were linked to the gene defect
in this family. Haplotype analyses localized the disease locus to an
8-centimorgan interval between loci D13S159 and D13S158/D13S174.
CONCLUSION: A disease locus responsible for an autosomal dominant
Stargardt's macular dystrophy is located on chromosome 13 band q34.
Identification of the mutated gene at this locus will lead to a better
understanding of macular degeneration.
