 |
 |

A Dominant Stargardt's Macular Dystrophy Locus Maps to Chromosome 13q34
Kang Zhang, PhD;
Paul P. Bither, OD;
Robert Park;
Larry A. Donoso, MD, PhD;
J. G. Seidman, PhD;
Christine E. Seidman, MD
Arch Ophthalmol. 1994;112(6):759-764.
Abstract
 |  |
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.
Author Affiliations
From the Department of Genetics and the Howard Hughes Medical Institute (Drs Zhang and J. Seidman and Mr Park), and the Cardiology Division, Brigham and Women's Hospital (Dr C. Seidman), Harvard Medical School, Boston, Mass; the Henry and Corinne Bower Laboratory for Macular Degeneration, Wills Eye Hospital, Philadelphia, Pa (Drs Zhang and Donoso); and Low Vision Services, Indianapolis, Ind (Dr Bither).
CiteULike Connotea Del.icio.us Digg Reddit Technorati Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
 |
A Novel Mutation in the ELOVL4 Gene Causes Autosomal Dominant Stargardt-like Macular Dystrophy
Maugeri et al.
IOVS 2004;45:4263-4267.
ABSTRACT
| FULL TEXT
Molecular genetics of age-related macular degeneration
Stone et al.
Hum Mol Genet 2001;10:2285-2292.
ABSTRACT
| FULL TEXT
A Novel Gene for Autosomal Dominant Stargardt-like Macular Dystrophy with Homology to the SUR4 Protein Family
Edwards et al.
IOVS 2001;42:2652-2663.
ABSTRACT
| FULL TEXT
Autosomal Dominant Stargardt-like Macular Dystrophy: Founder Effect and Reassessment of Genetic Heterogeneity
Donoso et al.
Arch Ophthalmol 2001;119:564-570.
ABSTRACT
| FULL TEXT
Once Again High Tech Meets Low Tech on Chromosome 6
Small
Arch Ophthalmol 2001;119:573-575.
FULL TEXT
A full genome scan for age-related maculopathy
Weeks et al.
Hum Mol Genet 2000;9:1329-1349.
ABSTRACT
| FULL TEXT
Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q
Reichel et al.
Br J Ophthalmol 1998;82:1162-1168.
ABSTRACT
| FULL TEXT
Linkage of Autosomal Dominant Radial Drusen (Malattia Leventinese) to Chromosome 2p16-21
Heon et al.
Arch Ophthalmol 1996;114:193-198.
ABSTRACT
Stargardt's Macular Dystrophy
Weleber
Arch Ophthalmol 1994;112:752-754.
ABSTRACT
|