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A new locus for dominant drusen and macular degeneration maps to chromosome 6q14
A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
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PURPOSE: To report the localization of a gene causing drusen and macular degeneration in a previously undescribed North American family. METHODS: Genetic mapping studies were performed using linkage analysis in a single family with drusen and atrophic macular degeneration. RESULTS: The clinical manifestations in this family ranged from fine macular drusen in asymptomatic middle-aged individuals to atrophic macular lesions in two children and two elderly patients. We mapped the gene to chromosome 6q14 between markers D6S2258 and D6S1644. CONCLUSIONS: In a family with autosomal dominant drusen and atrophic macular degeneration, the gene maps to a 3.2-cM region on chromosome 6q14. This locus appears to be distinct from, but adjacent to, the loci for cone-rod dystrophy 7 (CORD7) and North Carolina macular dystrophy (MCDR1). Future identification of the gene responsible for the disease in this family will provide a better understanding of macular degeneration.
Kniazeva M, Traboulsi EI, Yu Z, Stefko ST, Gorin MB, Shugart YY, O'Connell JR, Blaschak CJ, Cutting G, Han M, Zhang K
American journal of ophthalmology
2000-08-01 00:00
130
2
197-202
Adolescent,Adult,Aged,Aged, 80 and over,Atrophy,Child,Child, Preschool,Chromosome Mapping,Chromosomes, Human, Pair 6,DNA,Female,Genotype,Humans,Infant,Linkage (Genetics),Lod Score,Macula Lutea,Macular Degeneration,Male,Microsatellite Repeats,Middle Aged,Pedigree,Retinal Drusen,DNA
MCDB Department and Howard Hughes Medical Institute, University of Colorado at Boulder, Colorado, USA
Am. J. Ophthalmol.
0002-9394
S0002939400005857
465
True
11004294
