DOMINANT OPTIC ATROPHY (OPA1) MAPPED TO CHROMOSOME 3Q REGION .1. LINKAGE ANALYSIS

Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosoma l dominant eye disease. The disease is characterized by moderate to se vere visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varyi ng density. We examined three extended Danish pedigrees using highly i nformative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)(n) dinucleotide repeat polymorphism at l ocus D3S1314 (Z(max) = 10.34 at theta(M=F) = 0.075). Using two additio nal chromosome 3 markers we were able to map the OPA1 gene in the regi on between D3S1314 and D3S1265 (3q28 - qter).