Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varying density. We examined three extended Danish pedigrees using highly informative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)n dinucleotide repeat polymorphism at locus D3S1314 (Zmax = 10.34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter).
University Institute of Medical Biochemistry & Genetics, Department of Medical Genetics B24.4, Copenhagen, Denmark.
H
H
Eiberg
B
B
Kjer
P
P
Kjer
T
T
Rosenberg
D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D017931:DNA Primers; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid
D017931:DNA Primers; D004276:DNA, Satellite